A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514600



Internal ID15812959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18928573..18939269hg38UCSC Ensembl
Innerchr11:18950120..18960816hg19UCSC Ensembl
Innerchr11:18906696..18917392hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3810697
hg1910697
hg1810697
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2781856, nssv2784877, nssv2778831, nssv2780745, nssv2785417, nssv2788148, nssv2778982, nssv2781015, nssv2787526, nssv2779141, nssv2784222, nssv2779416, nssv2779743, nssv2779375, nssv2780234, nssv2788419, nssv2780809, nssv2788418, nssv2780901, nssv2779583, nssv2785894, nssv2780294, nssv2786669, nssv2785874, nssv2782575, nssv2786840, nssv2785224, nssv2783167, nssv2781758, nssv2787898, nssv2788458, nssv2781748, nssv2788383, nssv2783359, nssv2780978, nssv2779130, nssv2786405, nssv2785025, nssv2782976, nssv2781754, nssv2782101, nssv2785943, nssv2784799, nssv2784944, nssv2779517, nssv2784417, nssv2781524, nssv2782695, nssv2786826, nssv2780817, nssv2785081, nssv2780342, nssv2779842, nssv2782917, nssv2782876, nssv2783554, nssv2781447, nssv2784101, nssv2782262, nssv2783583, nssv2784221, nssv2781225, nssv2784048, nssv2778750, nssv2784949, nssv2780963, nssv2783134, nssv2787634, nssv2786415, nssv2778546, nssv2783133, nssv2779905, nssv2779155, nssv2785260, nssv2779404, nssv2787076, nssv2786528, nssv2788359, nssv2788428, nssv2782354, nssv2779620, nssv2781950, nssv2784225, nssv2780626, nssv2781955, nssv2779234, nssv2778931, nssv2787467, nssv2784354, nssv2782661, nssv2786929, nssv2782217, nssv2778855, nssv2784793, nssv2786737, nssv2783765, nssv2781769, nssv2779179, nssv2781006, nssv2781638, nssv2778925, nssv2788128, nssv2779271, nssv2778633, nssv2786905, nssv2780865, nssv2787349, nssv2786576, nssv2784412, nssv2786094, nssv2781386, nssv2781434, nssv2788381, nssv2783940, nssv2784691, nssv2782386, nssv2785158, nssv2782987, nssv2787114, nssv2781251, nssv2786024, nssv2783388, nssv2786334, nssv2783650, nssv2780786, nssv2787962, nssv2780174, nssv2785565, nssv2783674, nssv2781232, nssv2786168, nssv2786586, nssv2783283, nssv2781933, nssv2782816, nssv2779066, nssv2782636, nssv2786367, nssv2784778, nssv2779543, nssv2780083, nssv2779763, nssv2786859, nssv2786144, nssv2787915, nssv2785882, nssv2784620, nssv2782831, nssv2783524, nssv2782660, nssv2787033, nssv2786959, nssv2779982, nssv2780846, nssv2782156, nssv2779244, nssv2785226, nssv2788054, nssv2787633, nssv2783087, nssv2783673, nssv2783802, nssv2778924, nssv2780606, nssv2781714, nssv2779624, nssv2787588, nssv2780332, nssv2788255, nssv2787980, nssv2780013, nssv2782077, nssv2780633, nssv2782140, nssv2779563, nssv2778691, nssv2787293, nssv2786617, nssv2784499, nssv2787265, nssv2781037, nssv2779881, nssv2784246, nssv2781190, nssv2779841, nssv2787686, nssv2784267, nssv2783777, nssv2781926, nssv2784304, nssv2784072, nssv2779091, nssv2778888, nssv2787514, nssv2786124, nssv2785663, nssv2782595, nssv2782579, nssv2783591, nssv2784395, nssv2780971, nssv2786242, nssv2782155, nssv2781721, nssv2780986, nssv2778501, nssv2786107, nssv2780503, nssv2783075, nssv2780825, nssv2779413, nssv2780600, nssv2779310, nssv2787749, nssv2778687, nssv2784042, nssv2785664, nssv2780576, nssv2778865, nssv2787757, nssv2786931, nssv2779142, nssv2788329, nssv2785193, nssv2785515, nssv2783396, nssv2787740, nssv2783901, nssv2786656, nssv2779584, nssv2787683, nssv2785839, nssv2780065, nssv2780749, nssv2783205, nssv2782668, nssv2783413, nssv2785826, nssv2784988, nssv2780082, nssv2782298, nssv2786904, nssv2779255, nssv2779166, nssv2786295, nssv2785918, nssv2788396, nssv2787835, nssv2786456, nssv2780122, nssv2788390, nssv2783882, nssv2779680, nssv2785186, nssv2781713, nssv2779391, nssv2785598, nssv2782623, nssv2786296, nssv2782134, nssv2784957, nssv2781667, nssv2780883, nssv2782531, nssv2787059
SamplesNA19258, NA21636, NA21317, NA12842, NA21524, NA21423, NA18621, NA12286, NA18862, NA18861, NA18508, NA10851, NA12273, NA12414, NA18855, NA12843, NA12344, NA21310, NA12751, NA18925, NA18504, NA18959, NA21301, NA21635, NA12832, NA18510, NA18969, NA19107, NA07346, NA18563, NA19192, NA18519, NA10846, NA21359, NA12336, NA12802, NA18923, NA18558, NA18547, NA18960, NA18916, NA21479, NA07347, NA21493, NA21381, NA21365, NA21391, NA19130, NA11930, NA12275, NA19199, NA19123, NA12044, NA11994, NA10850, NA19128, NA18966, NA18990, NA21523, NA10839, NA21387, NA21344, NA18867, NA18605, NA21313, NA19175, NA12485, NA19184, NA12718, NA18871, NA18572, NA21366, NA18981, NA12234, NA19202, NA18573, NA12818, NA11919, NA19177, NA19142, NA19150, NA11893, NA19181, NA19151, NA11840, NA18930, NA12145, NA19252, NA12144, NA18523, NA19132, NA12778, NA10856, NA18570, NA19012, NA21316, NA18974, NA21608, NA18632, NA19115, NA19256, NA19149, NA19147, NA18863, NA18564, NA12272, NA12873, NA21718, NA07348, NA21388, NA21361, NA19117, NA18501, NA06994, NA19223, NA19178, NA19185, NA11843, NA21384, NA19121, NA18968, NA12890, NA21487, NA12154, NA18612, NA19214, NA18487, NA18577, NA11832, NA18497, NA19222, NA11830, NA19186, NA21383, NA18924, NA19249, NA11995, NA10845, NA18592, NA21476, NA21399, NA18917, NA18603, NA12045, NA19092, NA18545, NA21648, NA12004, NA21717, NA21386, NA12058, NA10857, NA19098, NA07357, NA12341, NA18967, NA19005, NA12812, NA18489, NA19198, NA12348, NA19131, NA11992, NA21401, NA19138, NA18498, NA18964, NA12005, NA21382, NA19180, NA12274, NA21512, NA19137, NA21525, NA21478, NA12815, NA19159, NA10855, NA21362, NA21634, NA18908, NA18973, NA19200, NA12748, NA11993, NA10847, NA21599, NA19247, NA18934, NA10836, NA12343, NA10863, NA18956, NA19205, NA18991, NA18516, NA18637, NA18910, NA18503, NA11839, NA10838, NA19221, NA21441, NA19114, NA19118, NA19000, NA07031, NA18518, NA18499, NA10830, NA18856, NA12239, NA12827, NA12817, NA19101, NA10852, NA19257, NA12766, NA19225, NA06985, NA19095, NA19094, NA06995, NA11882, NA11881, NA18961, NA12864, NA19174, NA21425, NA19144, NA21615, NA10840, NA19193, NA07037, NA07055, NA21513, NA18911, NA19143, NA12708, NA12740, NA19109, NA19248, NA21580, NA21404, NA18987, NA12749, NA18994, NA10860, NA12830, NA21581, NA21486, NA19096, NA18854, NA21312, NA18972, NA18552, NA21389, NA07056, NA19224, NA07000, NA21514, NA10864, NA18622, NA19153, NA18562
Known GenesMRGPRX1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514600
Frequency
Sample Size2366
Observed Gain240
Observed Loss25
Observed Complex0
Frequencyn/a


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