A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514902



Internal ID15466536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54764800..54834857hg38UCSC Ensembl
Innerchr19:55276252..55346312hg19UCSC Ensembl
Innerchr19:59968064..60038124hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3870058
hg1970061
hg1870061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2844117, nssv2844151, nssv2844154, nssv2844222, nssv2842328, nssv2844161, nssv2844217, nssv2844127, nssv2842413, nssv2844180, nssv2844224, nssv2842316, nssv2842473, nssv2844168, nssv2842345, nssv2842515, nssv2842304, nssv2842412, nssv2844135, nssv2842287, nssv2842335, nssv2844116, nssv2842522, nssv2842481, nssv2844065, nssv2844141, nssv2844147, nssv2842404, nssv2844175, nssv2844063, nssv2842389, nssv2842297, nssv2844169, nssv2844205, nssv2842310, nssv2842374, nssv2842431, nssv2844122, nssv2842526, nssv2842327, nssv2844111, nssv2842399, nssv2842435, nssv2844078, nssv2842415, nssv2844083, nssv2842476, nssv2842291, nssv2844183, nssv2844184, nssv2844189, nssv2842362, nssv2844160, nssv2844193, nssv2844119, nssv2844124, nssv2844114, nssv2844228, nssv2842471, nssv2842366, nssv2842538, nssv2844162, nssv2842443, nssv2844109, nssv2842361, nssv2844054, nssv2842501, nssv2844121, nssv2842391, nssv2844196, nssv2842350, nssv2842281, nssv2844064, nssv2842344, nssv2842288, nssv2842543, nssv2842491, nssv2842466, nssv2844112, nssv2842367, nssv2842384, nssv2844100, nssv2844213, nssv2844040, nssv2842432, nssv2842450, nssv2844126, nssv2842499, nssv2842285, nssv2842349, nssv2842331, nssv2844143, nssv2844079, nssv2844039, nssv2842458, nssv2842510, nssv2844074, nssv2842293, nssv2844105, nssv2844170, nssv2842299, nssv2842552, nssv2842438, nssv2842351, nssv2842326, nssv2842414, nssv2844059, nssv2842342, nssv2844075, nssv2844094, nssv2844235, nssv2842540, nssv2844071, nssv2844191, nssv2844088, nssv2844203, nssv2844223, nssv2842461, nssv2842273, nssv2842283, nssv2842395, nssv2844047, nssv2844207, nssv2844140, nssv2844144, nssv2842427, nssv2844208, nssv2842276, nssv2842420, nssv2844034, nssv2842445, nssv2842485, nssv2844165, nssv2842533, nssv2842409, nssv2842547, nssv2844201, nssv2842321, nssv2842486, nssv2842534, nssv2842422, nssv2844148, nssv2842507, nssv2844164, nssv2842305, nssv2842451, nssv2844195, nssv2844085, nssv2842279, nssv2842386, nssv2842398, nssv2844098, nssv2844158, nssv2842337, nssv2842478, nssv2842490, nssv2844076, nssv2844166, nssv2844137, nssv2842500, nssv2842303, nssv2842549, nssv2842330, nssv2842419, nssv2842448, nssv2842535, nssv2842434, nssv2842363, nssv2844102, nssv2844051, nssv2842487, nssv2844045, nssv2844163, nssv2844134, nssv2844200, nssv2842541, nssv2842385, nssv2842444, nssv2842447, nssv2842456, nssv2842370, nssv2842373, nssv2842286, nssv2842496, nssv2842550, nssv2842474, nssv2842542, nssv2842406, nssv2844211, nssv2842343, nssv2842488, nssv2844128, nssv2842503, nssv2842442, nssv2844036, nssv2842358, nssv2844093, nssv2844136, nssv2842506, nssv2842320, nssv2844080, nssv2842472, nssv2842514, nssv2844132, nssv2842530, nssv2844052, nssv2844218, nssv2842323, nssv2844155, nssv2842312, nssv2842446, nssv2842324, nssv2842278, nssv2842546, nssv2844131, nssv2842376, nssv2844133, nssv2844053, nssv2842400, nssv2842300, nssv2842528, nssv2844042, nssv2842282, nssv2842383, nssv2842307, nssv2842509, nssv2844043, nssv2844066, nssv2842380, nssv2842505, nssv2844142, nssv2842408, nssv2842469, nssv2842467, nssv2844174, nssv2842392, nssv2844081, nssv2842436, nssv2842463, nssv2844030, nssv2844057, nssv2844199, nssv2844062, nssv2842544, nssv2844082, nssv2842518, nssv2842551, nssv2842302, nssv2844173, nssv2842387, nssv2844058, nssv2842426, nssv2844178, nssv2844077, nssv2842377, nssv2844209, nssv2844153, nssv2844226, nssv2842347, nssv2842275, nssv2842511, nssv2842545, nssv2842428, nssv2842497, nssv2842548, nssv2842516, nssv2844031, nssv2842477, nssv2844032, nssv2844038, nssv2842354, nssv2842479, nssv2844138, nssv2842425, nssv2842519, nssv2842290, nssv2842470, nssv2842502, nssv2844097, nssv2842334, nssv2842341, nssv2844055, nssv2844061, nssv2842492, nssv2844236, nssv2842452, nssv2844110, nssv2842439, nssv2844115, nssv2842346, nssv2842397, nssv2844033, nssv2842352, nssv2844216, nssv2844120, nssv2842423, nssv2842322, nssv2844171, nssv2844194, nssv2844139, nssv2844152, nssv2842433, nssv2844187, nssv2842403, nssv2842498, nssv2844177, nssv2842390, nssv2844232, nssv2844050, nssv2844106, nssv2842356, nssv2844070, nssv2842460, nssv2842531, nssv2844046, nssv2842289, nssv2842429, nssv2844219, nssv2842441, nssv2842296, nssv2842529, nssv2842513, nssv2842355, nssv2844146, nssv2842306, nssv2842313, nssv2844037, nssv2842537, nssv2842364, nssv2842371, nssv2844231, nssv2844091, nssv2842280, nssv2844230, nssv2844234, nssv2844225, nssv2844220, nssv2842424, nssv2842480, nssv2842298, nssv2842536, nssv2844090, nssv2844095, nssv2842459, nssv2842301, nssv2842357, nssv2844204, nssv2842482, nssv2844089, nssv2844215, nssv2842410, nssv2842339, nssv2842359, nssv2842553, nssv2842418, nssv2842453, nssv2844048, nssv2844130, nssv2844186, nssv2842449, nssv2842421, nssv2842512, nssv2844069, nssv2842309, nssv2844176, nssv2844056, nssv2844068, nssv2842353, nssv2844104, nssv2844129, nssv2842319, nssv2842483, nssv2844233, nssv2842274, nssv2844197, nssv2844210, nssv2844049, nssv2842489, nssv2844101, nssv2844125, nssv2844182, nssv2844113, nssv2842284, nssv2842440, nssv2844214, nssv2842475, nssv2844156, nssv2844202, nssv2844212, nssv2842437, nssv2842340, nssv2842468, nssv2844107, nssv2842416, nssv2844227, nssv2844198, nssv2842495, nssv2844067, nssv2842375, nssv2842517, nssv2842388, nssv2844108, nssv2842454, nssv2842393, nssv2844044, nssv2842318, nssv2842315, nssv2842508, nssv2842417, nssv2844073, nssv2842401, nssv2844167, nssv2842494, nssv2842504, nssv2842484, nssv2844041, nssv2844181, nssv2844188, nssv2844092, nssv2844185, nssv2844096, nssv2842292, nssv2842333, nssv2844190, nssv2842524, nssv2844150, nssv2842527, nssv2844159, nssv2842402, nssv2844157, nssv2842294, nssv2842394, nssv2844086, nssv2844118, nssv2842317, nssv2842462, nssv2844179, nssv2842455, nssv2844035, nssv2844072, nssv2842539, nssv2844172, nssv2842379, nssv2842295, nssv2842329, nssv2842465, nssv2844221, nssv2842311, nssv2842308, nssv2844103, nssv2842360, nssv2842372, nssv2844149, nssv2842411, nssv2844192, nssv2842348, nssv2842521, nssv2842525, nssv2842277, nssv2844206, nssv2844099, nssv2844123, nssv2842368, nssv2842382, nssv2844145, nssv2844084, nssv2842365, nssv2842457, nssv2842493, nssv2842523, nssv2844060, nssv2842336, nssv2842369, nssv2842381, nssv2842532, nssv2842314, nssv2842396, nssv2842430, nssv2844087, nssv2842520, nssv2842332, nssv2842378, nssv2844229, nssv2842338, nssv2842407, nssv2842325, nssv2842405, nssv2842464
SamplesNA10859, NA18503, NA12767, NA19012, NA19146, NA21634, NA11881, NA18621, NA19207, NA18870, NA19248, NA12154, NA12818, NA19127, NA12489, NA19194, NA18605, NA21438, NA07347, NA21512, NA19214, NA21441, NA18509, NA21390, NA18594, NA19192, NA18871, NA12286, NA07349, NA12801, NA18523, NA19114, NA18966, NA11920, NA19209, NA21447, NA12347, NA18501, NA19093, NA19120, NA19178, NA10839, NA11918, NA19191, NA12264, NA18859, NA19223, NA12815, NA10847, NA18545, NA18603, NA21718, NA18516, NA19186, NA06993, NA21423, NA18953, NA12828, NA18517, NA18947, NA19109, NA07019, NA12005, NA18489, NA19144, NA07348, NA12058, NA18507, NA10855, NA18860, NA21425, NA18994, NA07051, NA21454, NA10837, NA19257, NA21312, NA21361, NA21310, NA19180, NA19236, NA12766, NA12287, NA19151, NA19208, NA18862, NA21384, NA18949, NA18868, NA19143, NA12414, NA19140, NA11919, NA12763, NA19211, NA18967, NA19148, NA19239, NA11839, NA11840, NA12753, NA07034, NA21493, NA12004, NA18854, NA19199, NA18635, NA21488, NA18622, NA10846, NA19197, NA19107, NA18990, NA18636, NA18592, NA19096, NA21363, NA12273, NA12761, NA18956, NA21513, NA10852, NA18959, NA18609, NA18497, NA11843, NA12329, NA11831, NA18485, NA11894, NA12400, NA18637, NA11995, NA18916, NA18593, NA19181, NA12777, NA12234, NA21399, NA12144, NA12751, NA19190, NA19000, NA21442, NA19247, NA12239, NA12145, NA07346, NA12716, NA19129, NA19189, NA21525, NA18633, NA21316, NA12778, NA12348, NA12877, NA21388, NA18968, NA19102, NA12275, NA19005, NA18510, NA19119, NA21455, NA12485, NA19154, NA21382, NA10856, NA21303, NA21485, NA18978, NA11892, NA18961, NA19237, NA18925, NA10836, NA12283, NA18910, NA19141, NA18940, NA19235, NA12891, NA18987, NA12890, NA12146, NA07055, NA19138, NA12272, NA21476, NA10860, NA18909, NA19201, NA21439, NA06991, NA19193, NA19128, NA12812, NA18857, NA19115, NA12889, NA19116, NA21360, NA19123, NA19097, NA19132, NA21383, NA21480, NA10845, NA07022, NA12878, NA21362, NA11830, NA21366, NA19205, NA19225, NA18852, NA19224, NA12546, NA12248, NA18499, NA18924, NA19198, NA12045, NA10840, NA11829, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA19113, NA18935, NA18981, NA21614, NA18908, NA19177, NA19249, NA06994, NA21387, NA21391, NA12274, NA12832, NA19185, NA12760, NA19092, NA21302, NA12335, NA18555, NA19200, NA19007, NA21365, NA11917, NA18519, NA19202, NA07000, NA12775, NA19121, NA10864, NA18980, NA21636, NA21494, NA07031, NA21526, NA07435, NA19142, NA19137, NA19183, NA10831, NA12827, NA18964, NA12718, NA18863, NA12043, NA19152, NA12249, NA18861, NA12750, NA10843, NA12748, NA21490, NA11930, NA12344, NA07037, NA21524, NA12802, NA19222, NA21317, NA18933, NA21580, NA18952, NA18975, NA07056, NA18874, NA19173, NA19174, NA19252, NA12752, NA12875, NA21478, NA21599, NA18612, NA18869, NA18500, NA21307, NA19149, NA21404, NA18550, NA18570, NA19003, NA21600, NA18511, NA06989, NA12340, NA21487, NA18948, NA12813, NA18969, NA18972, NA19150, NA18573, NA18608, NA21403, NA21479, NA18542, NA19184, NA21386, NA18855, NA18484, NA19210, NA12776, NA11893, NA18524, NA19108, NA18965, NA21489, NA18488, NA12341, NA12044, NA12376, NA18506, NA18873, NA19147, NA21400, NA10863, NA18632, NA19117, NA11882, NA19161, NA21309, NA12843, NA18998, NA18624, NA18934, NA18508, NA12056, NA18992, NA21686, NA12282, NA12336, NA12383, NA18566, NA11994, NA21615, NA21716, NA12155, NA18576, NA18960, NA12864, NA18563, NA07357, NA12873, NA21301, NA12343, NA18991, NA18930, NA12814, NA12740, NA18856, NA21359, NA07048, NA21453, NA21477, NA18547, NA19182, NA21523, NA12829, NA19256, NA21522, NA18973, NA21608, NA12830, NA19100, NA18970, NA12708, NA19153, NA18518, NA18537, NA18620, NA19122, NA19172, NA07014, NA12892, NA18572, NA19094, NA19103, NA06985, NA19206, NA21717, NA18498, NA18923, NA18486, NA06986, NA18522, NA21514, NA18875, NA18558, NA19098, NA10850, NA21648, NA12872, NA18504, NA19175, NA21381, NA18487, NA18564, NA18942, NA18997, NA19221, NA21475, NA21581, NA18562, NA19131, NA19159, NA18579, NA18974, NA21440, NA18945, NA21313, NA19145, NA21401, NA11832, NA19258, NA21486, NA10851, NA18582, NA18999, NA10857, NA18552, NA21635, NA18907, NA18911, NA19101, NA12749, NA18995, NA21344, NA06984, NA18867, NA21601, NA12375, NA18872, NA12156, NA12386, NA06995, NA21389, NA10835, NA18971, NA10830, NA18577, NA19099, NA11992, NA10838, NA18917, NA11993, NA12399, NA12842, NA19160, NA21583, NA18571, NA19179, NA12817, NA19118, NA18611, NA19095
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514902
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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