A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514957



Internal ID15466591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550551..43551711hg38UCSC Ensembl
Innerchr21:44970432..44971592hg19UCSC Ensembl
Innerchr21:43794860..43796020hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381161
hg191161
hg181161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2861313, nssv2863007, nssv2865823, nssv2868356, nssv2867297, nssv2865523, nssv2864629, nssv2860907, nssv2859723, nssv2862248, nssv2863384, nssv2861453, nssv2867982, nssv2864935, nssv2865684, nssv2864182, nssv2865399, nssv2867310, nssv2865891, nssv2859186, nssv2859756, nssv2863809, nssv2859805, nssv2863607, nssv2863570, nssv2864112, nssv2865834, nssv2864414, nssv2864022, nssv2866345, nssv2863301, nssv2863307, nssv2864224, nssv2866030, nssv2863447, nssv2867296, nssv2860762, nssv2859806, nssv2862749, nssv2860120, nssv2860625, nssv2862098, nssv2865355, nssv2862070, nssv2868348, nssv2866123, nssv2864170, nssv2865151, nssv2867344, nssv2858881, nssv2862066, nssv2864088, nssv2865339, nssv2862675, nssv2859902, nssv2862653, nssv2864021, nssv2866208, nssv2868213, nssv2865199, nssv2867942, nssv2860815, nssv2861102, nssv2863357, nssv2867138, nssv2862280, nssv2867406, nssv2859161, nssv2864951, nssv2865441, nssv2862413, nssv2861008, nssv2865844, nssv2868013, nssv2863625, nssv2859532, nssv2859709, nssv2860139, nssv2865685, nssv2864329, nssv2864377, nssv2858619, nssv2866460, nssv2860508, nssv2867732, nssv2864369, nssv2866605, nssv2863337, nssv2862606, nssv2863323, nssv2866426, nssv2866594, nssv2859689, nssv2868071, nssv2860491, nssv2861031, nssv2859664, nssv2864058, nssv2859999, nssv2860617, nssv2864337, nssv2859346, nssv2860876, nssv2859786, nssv2866659, nssv2864076, nssv2864169, nssv2865427, nssv2865922, nssv2866138, nssv2867837, nssv2863328, nssv2862709, nssv2862729, nssv2860953, nssv2865529, nssv2866633, nssv2864985, nssv2861456, nssv2862666, nssv2866649, nssv2867466, nssv2862142, nssv2865764, nssv2861275, nssv2861793, nssv2866076, nssv2861279, nssv2865241, nssv2867822, nssv2860820, nssv2866765, nssv2861762, nssv2863028, nssv2865326, nssv2866254, nssv2865500, nssv2866974, nssv2859180, nssv2859588, nssv2861483, nssv2862881, nssv2867438, nssv2867814, nssv2866038, nssv2859342, nssv2861385, nssv2863538, nssv2868027, nssv2868478, nssv2863095, nssv2858987, nssv2860744, nssv2864375, nssv2865487, nssv2867809, nssv2864599, nssv2860446, nssv2859404, nssv2859454, nssv2860572, nssv2864663, nssv2858507, nssv2859322, nssv2860080, nssv2862912, nssv2868304, nssv2864332, nssv2867746, nssv2859708, nssv2863396, nssv2864471, nssv2865364, nssv2859071, nssv2862981, nssv2865060, nssv2867054, nssv2866031, nssv2859441, nssv2861357, nssv2868343, nssv2859819, nssv2865077, nssv2862772, nssv2862894, nssv2867621, nssv2859523, nssv2865322, nssv2866444, nssv2867166, nssv2858564, nssv2861201, nssv2862461, nssv2860881, nssv2866205, nssv2859296, nssv2861004, nssv2861253, nssv2858539, nssv2868190, nssv2860088, nssv2865660, nssv2862440, nssv2863586, nssv2867522, nssv2861861, nssv2862640, nssv2867316, nssv2859433, nssv2863816, nssv2859418, nssv2859669, nssv2864067, nssv2864339, nssv2865452, nssv2867365, nssv2858647, nssv2858838, nssv2862047, nssv2866991, nssv2859150, nssv2864060, nssv2865868, nssv2868278, nssv2859986, nssv2865792, nssv2865192, nssv2860558, nssv2867690, nssv2865005, nssv2860912, nssv2867585, nssv2859885, nssv2864764, nssv2866827, nssv2867450, nssv2859587, nssv2861221, nssv2862182, nssv2863366, nssv2866913, nssv2861630, nssv2866278, nssv2864338, nssv2861774, nssv2864716, nssv2859266, nssv2863169, nssv2866011, nssv2858936, nssv2865202, nssv2868220, nssv2861891, nssv2864359, nssv2865469, nssv2866461, nssv2860083, nssv2858525, nssv2858627, nssv2859067, nssv2866427, nssv2863669, nssv2866780, nssv2859440, nssv2865533, nssv2868116, nssv2862509, nssv2860854, nssv2860027, nssv2860834, nssv2866850, nssv2867928, nssv2866291, nssv2859214, nssv2861642, nssv2863295, nssv2864265, nssv2866826, nssv2868014, nssv2866492, nssv2862454, nssv2864157, nssv2866995, nssv2861312, nssv2868054, nssv2865913, nssv2867473, nssv2860350, nssv2862108, nssv2862120, nssv2866352, nssv2864061, nssv2864726, nssv2858731, nssv2862605, nssv2862730, nssv2859696, nssv2863553, nssv2866098, nssv2860256, nssv2859835, nssv2863375, nssv2861781, nssv2862581, nssv2866824, nssv2863287, nssv2864190, nssv2867289, nssv2863473, nssv2864939, nssv2867439, nssv2865918, nssv2859337, nssv2865008, nssv2860266, nssv2864549, nssv2866441, nssv2868115, nssv2868489, nssv2865564, nssv2862548, nssv2862995, nssv2859830, nssv2860267, nssv2865126, nssv2863183, nssv2864412, nssv2864916, nssv2867884, nssv2860695, nssv2866822, nssv2867618, nssv2862018, nssv2866874, nssv2864001, nssv2864865, nssv2859399, nssv2860710, nssv2863581, nssv2859179, nssv2864305, nssv2864793, nssv2860400, nssv2867474, nssv2867446, nssv2861576, nssv2866170, nssv2868102, nssv2863935, nssv2864384, nssv2861139, nssv2859921, nssv2858733, nssv2859165, nssv2861260, nssv2862144, nssv2860954, nssv2864066, nssv2858620, nssv2866725, nssv2864273, nssv2867159, nssv2866965, nssv2859816, nssv2865765, nssv2865476, nssv2861133, nssv2859217, nssv2859313, nssv2863662, nssv2864378, nssv2861055, nssv2865747, nssv2867416, nssv2858658, nssv2859825, nssv2858777, nssv2863072, nssv2867725, nssv2861105, nssv2865274, nssv2858892, nssv2861838, nssv2864889, nssv2865349, nssv2865140, nssv2858498, nssv2865390, nssv2864684, nssv2866082, nssv2862247, nssv2863683, nssv2868354, nssv2864183, nssv2865975, nssv2865340, nssv2864607, nssv2860639, nssv2863378, nssv2864394, nssv2864468
SamplesNA10859, NA18503, NA12767, NA19012, NA21634, NA18621, NA19207, NA18870, NA19248, NA12154, NA12818, NA19127, NA18605, NA21438, NA07347, NA21512, NA19214, NA21441, NA18594, NA19192, NA18871, NA12286, NA07349, NA18523, NA19114, NA18966, NA11920, NA19209, NA21447, NA12347, NA18501, NA19093, NA19120, NA19178, NA10839, NA11918, NA19191, NA18859, NA19223, NA10847, NA18545, NA18603, NA21718, NA18516, NA06993, NA21423, NA18953, NA12828, NA18517, NA18947, NA19109, NA07019, NA12005, NA18489, NA19144, NA07348, NA12058, NA18507, NA10855, NA21425, NA18994, NA07051, NA21454, NA10837, NA19257, NA21312, NA21361, NA21310, NA19236, NA12287, NA19151, NA19208, NA18862, NA21384, NA18949, NA18868, NA19143, NA12414, NA19140, NA11919, NA12763, NA19211, NA18967, NA19148, NA19239, NA11840, NA12753, NA07034, NA21493, NA12004, NA18854, NA19199, NA18635, NA21488, NA19197, NA19107, NA18990, NA18636, NA18592, NA19096, NA21363, NA12273, NA12761, NA10852, NA18959, NA18609, NA18497, NA11843, NA12329, NA18485, NA12400, NA18637, NA11995, NA18916, NA18593, NA19181, NA12777, NA12234, NA21399, NA12144, NA19190, NA19000, NA21442, NA19247, NA12239, NA12145, NA12716, NA18518, NA18537, NA19122, NA19129, NA19172, NA19189, NA21525, NA12892, NA18633, NA18572, NA19094, NA21316, NA06985, NA12778, NA19206, NA21717, NA12348, NA12877, NA18498, NA21388, NA18968, NA19102, NA06986, NA18522, NA21514, NA12275, NA18875, NA19005, NA18510, NA19119, NA21455, NA12485, NA18558, NA19098, NA19154, NA21382, NA10850, NA21648, NA10856, NA12872, NA18504, NA19175, NA21485, NA18978, NA21381, NA11892, NA18487, NA18564, NA18942, NA18961, NA18925, NA18997, NA19221, NA10836, NA21581, NA18562, NA19131, NA19159, NA18910, NA18579, NA18974, NA21440, NA18945, NA21313, NA18940, NA19145, NA21401, NA11832, NA19258, NA21486, NA12891, NA10851, NA12890, NA18582, NA18999, NA10857, NA12146, NA07055, NA18552, NA21635, NA12272, NA21476, NA10860, NA18907, NA18909, NA18911, NA19201, NA21439, NA18995, NA21344, NA06991, NA06984, NA18867, NA21601, NA12375, NA18872, NA19128, NA12812, NA18857, NA12156, NA12386, NA06995, NA12889, NA19116, NA21389, NA10835, NA21360, NA18971, NA19097, NA19132, NA21383, NA10845, NA18577, NA19099, NA12878, NA21362, NA11992, NA21366, NA19205, NA19225, NA18917, NA12399, NA12546, NA12842, NA19160, NA21583, NA12248, NA18499, NA18571, NA18924, NA19179, NA19198, NA12817, NA12045, NA18611, NA19095, NA10840, NA11829, NA19130, NA19171, NA19240, NA12874, NA18532, NA18853, NA19204, NA19113, NA18935, NA18981, NA21614, NA18908, NA19177, NA19249, NA21387, NA21391, NA12832, NA19092, NA18555, NA19200, NA19007, NA21365, NA11917, NA18519, NA07000, NA12775, NA19121, NA18980, NA21636, NA21494, NA21526, NA07435, NA19142, NA19137, NA19183, NA10831, NA12827, NA18964, NA12718, NA18863, NA12043, NA19152, NA12249, NA18861, NA12750, NA12748, NA21490, NA12344, NA07037, NA21524, NA19222, NA21317, NA18933, NA18952, NA18975, NA07056, NA18874, NA19173, NA19252, NA12752, NA21478, NA21599, NA18612, NA18869, NA18500, NA21307, NA21404, NA18550, NA19003, NA21600, NA18511, NA06989, NA21487, NA18948, NA18969, NA18972, NA19150, NA18573, NA18608, NA21479, NA18542, NA19184, NA21386, NA18855, NA18484, NA12776, NA18524, NA18488, NA12341, NA12044, NA12376, NA18506, NA18873, NA19147, NA21400, NA18632, NA19117, NA11882, NA21309, NA12843, NA18998, NA18624, NA18934, NA12056, NA18992, NA21686, NA12336, NA12383, NA18566, NA11994, NA21615, NA21716, NA12155, NA18576, NA18960, NA12864, NA18563, NA07357, NA12873, NA12343, NA18991, NA18930, NA21359, NA07048, NA21453, NA18547, NA19182, NA21523, NA12829, NA19256, NA21522, NA18973, NA21608, NA12830, NA19100, NA18970
Known GenesHSF2BP
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514957
Frequency
Sample Size2366
Observed Gain0
Observed Loss401
Observed Complex0
Frequencyn/a


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