A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515036



Internal ID15813395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32556461..32604823hg38UCSC Ensembl
Innerchr6:32524238..32572600hg19UCSC Ensembl
Innerchr6:32632216..32680578hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3848363
hg1948363
hg1848363
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2936196, nssv2936122, nssv2936281, nssv2936216, nssv2936141, nssv2936235, nssv2936146, nssv2936099, nssv2936072, nssv2936209, nssv2936178, nssv2936127, nssv2933599, nssv2936297, nssv2936165, nssv2933618, nssv2936103, nssv2936069, nssv2933648, nssv2933607, nssv2936045, nssv2933637, nssv2933635, nssv2936181, nssv2936180, nssv2936277, nssv2936135, nssv2936104, nssv2936187, nssv2936078, nssv2936110, nssv2936091, nssv2936245, nssv2936259, nssv2936230, nssv2936226, nssv2936206, nssv2936077, nssv2936312, nssv2936068, nssv2936066, nssv2933633, nssv2936290, nssv2933609, nssv2936300, nssv2933603, nssv2936096, nssv2936124, nssv2933660, nssv2936267, nssv2936215, nssv2936213, nssv2936138, nssv2936252, nssv2936298, nssv2936094, nssv2936268, nssv2933605, nssv2936085, nssv2936166, nssv2936101, nssv2936263, nssv2936159, nssv2936120, nssv2936115, nssv2936145, nssv2936048, nssv2936317, nssv2936313, nssv2936198, nssv2936191, nssv2936220, nssv2936280, nssv2933657, nssv2936279, nssv2936287, nssv2936257, nssv2936234, nssv2933647, nssv2936062, nssv2936059, nssv2936240, nssv2936151, nssv2936262, nssv2936047, nssv2936171, nssv2936303, nssv2936092, nssv2936052, nssv2936100, nssv2933643, nssv2933622, nssv2936155, nssv2936246, nssv2936056, nssv2936285, nssv2936236, nssv2933649, nssv2936148, nssv2936292, nssv2936222, nssv2936087, nssv2936140, nssv2936221, nssv2933600, nssv2936212, nssv2936199, nssv2933652, nssv2933645, nssv2936210, nssv2936125, nssv2936247, nssv2936143, nssv2933626, nssv2936083, nssv2936185, nssv2936295, nssv2936205, nssv2936080, nssv2936114, nssv2936276, nssv2936241, nssv2933606, nssv2933620, nssv2933619, nssv2936040, nssv2936131, nssv2936130, nssv2936074, nssv2936186, nssv2936063, nssv2933596, nssv2936116, nssv2936294, nssv2936118, nssv2936149, nssv2936046, nssv2936055, nssv2936075, nssv2936270, nssv2933636, nssv2936314, nssv2933659, nssv2933638, nssv2936306, nssv2936173, nssv2936283, nssv2936282, nssv2936211, nssv2936244, nssv2936161, nssv2936249, nssv2936316, nssv2936058, nssv2936119, nssv2936102, nssv2936254, nssv2936309, nssv2936106, nssv2936168, nssv2936081, nssv2936264, nssv2936237, nssv2936082, nssv2936250, nssv2936179, nssv2936289, nssv2933614, nssv2933644, nssv2936133, nssv2936105, nssv2936274, nssv2936132, nssv2936266, nssv2933631, nssv2933601, nssv2933629, nssv2936182, nssv2933653, nssv2936301, nssv2936150, nssv2936318, nssv2936076, nssv2933628, nssv2936284, nssv2936123, nssv2936242, nssv2936084, nssv2933612, nssv2936176, nssv2936286, nssv2936095, nssv2936255, nssv2936156, nssv2933627, nssv2933615, nssv2933634, nssv2936265, nssv2936310, nssv2936307, nssv2936163, nssv2936232, nssv2936219, nssv2936136, nssv2936113, nssv2936304, nssv2936042, nssv2933632, nssv2933597, nssv2936225, nssv2936126, nssv2936090, nssv2936269, nssv2936172, nssv2936044, nssv2936147, nssv2936134, nssv2936238, nssv2936188, nssv2936299, nssv2936057, nssv2936079, nssv2936201, nssv2936192, nssv2936060, nssv2936202, nssv2933613, nssv2933621, nssv2933608, nssv2936109, nssv2936162, nssv2936183, nssv2936117, nssv2936189, nssv2936296, nssv2936224, nssv2936153, nssv2936129, nssv2936231, nssv2936175, nssv2936089, nssv2936071, nssv2936207, nssv2936158, nssv2936139, nssv2936190, nssv2936054, nssv2936193, nssv2936302, nssv2936152, nssv2936073, nssv2933658, nssv2936273, nssv2936067, nssv2936251, nssv2933598, nssv2936217, nssv2936208, nssv2933654, nssv2936233, nssv2936315, nssv2936248, nssv2936086, nssv2933604, nssv2936053, nssv2936097, nssv2936070, nssv2936197, nssv2933646, nssv2936164, nssv2936154, nssv2936107, nssv2936111, nssv2936108, nssv2933656, nssv2936088, nssv2933623, nssv2933651, nssv2933611, nssv2933640, nssv2936258, nssv2936177, nssv2936253, nssv2936214, nssv2936157, nssv2936260, nssv2936167, nssv2936194, nssv2936142, nssv2933641, nssv2936288, nssv2936160, nssv2933625, nssv2936098, nssv2936093, nssv2936305, nssv2936112, nssv2936291, nssv2936174, nssv2933655, nssv2936275, nssv2936223, nssv2936061, nssv2936278, nssv2933630, nssv2936229, nssv2936319, nssv2933624, nssv2936239, nssv2936049, nssv2936243, nssv2936128, nssv2936169, nssv2936184, nssv2936203, nssv2936064, nssv2936051, nssv2936137, nssv2936256, nssv2936144, nssv2936293, nssv2936204, nssv2936195, nssv2933650, nssv2936311, nssv2936121, nssv2936261, nssv2936200, nssv2936065, nssv2936050, nssv2933616, nssv2933602, nssv2933642, nssv2933617, nssv2936228, nssv2933639, nssv2936043, nssv2936272, nssv2936041, nssv2936271, nssv2933610, nssv2936227, nssv2936170, nssv2933595, nssv2936218, nssv2936308
SamplesNA12383, NA21636, NA21317, NA12842, NA21524, NA21488, NA21423, NA18621, NA18947, NA12286, NA19204, NA18862, NA18861, NA18508, NA10851, NA12273, NA18524, NA12414, NA18855, NA18935, NA11920, NA12344, NA21310, NA18999, NA12751, NA21489, NA18925, NA12801, NA21475, NA21301, NA21360, NA21635, NA18633, NA21522, NA18510, NA12399, NA12813, NA18563, NA19171, NA10835, NA10846, NA21359, NA18995, NA12336, NA19191, NA18547, NA18960, NA18916, NA21479, NA07347, NA18582, NA18571, NA21493, NA21365, NA19130, NA12275, NA19199, NA19123, NA12156, NA11994, NA19235, NA19207, NA19128, NA18990, NA19239, NA21387, NA21400, NA18867, NA12777, NA21307, NA21313, NA12760, NA19120, NA07022, NA19194, NA19161, NA18933, NA19184, NA18485, NA12877, NA12718, NA18572, NA18948, NA21438, NA21366, NA12234, NA19208, NA18573, NA11919, NA19142, NA12386, NA18875, NA11893, NA19181, NA19151, NA11840, NA18930, NA19154, NA18857, NA18532, NA06989, NA18555, NA19252, NA18523, NA19132, NA12778, NA10856, NA18570, NA18593, NA12546, NA19012, NA21316, NA12043, NA21608, NA18953, NA19003, NA18632, NA19115, NA19149, NA19147, NA18517, NA18863, NA18564, NA12272, NA12873, NA21718, NA21390, NA21388, NA21361, NA12347, NA19182, NA18484, NA19223, NA19178, NA07349, NA19211, NA18509, NA12329, NA19185, NA18609, NA19102, NA12875, NA11843, NA19116, NA21384, NA19121, NA21363, NA19129, NA11892, NA12890, NA21487, NA12154, NA18612, NA10837, NA19214, NA18577, NA18620, NA18997, NA21403, NA18497, NA19141, NA19222, NA11830, NA21686, NA21477, NA19186, NA21383, NA18924, NA19249, NA11829, NA12767, NA18980, NA12236, NA21476, NA19122, NA18507, NA21399, NA19145, NA18917, NA18603, NA12045, NA19092, NA18486, NA18545, NA21648, NA21717, NA21386, NA12058, NA19190, NA18870, NA12400, NA12155, NA07357, NA12341, NA18967, NA12812, NA19201, NA18489, NA21600, NA21526, NA19119, NA18635, NA19198, NA19131, NA18942, NA21401, NA19197, NA12283, NA12287, NA19138, NA18498, NA06993, NA12282, NA12005, NA21447, NA18970, NA21382, NA07019, NA18874, NA12274, NA06984, NA21454, NA21525, NA21453, NA21478, NA12815, NA19159, NA21716, NA19189, NA10855, NA21601, NA21362, NA19209, NA21634, NA21442, NA18908, NA18973, NA21494, NA12748, NA19007, NA21599, NA21480, NA19247, NA19210, NA18934, NA10836, NA12343, NA10863, NA10831, NA19152, NA12872, NA19205, NA19236, NA18516, NA21439, NA18637, NA12376, NA18910, NA18503, NA19097, NA19221, NA18566, NA21441, NA19118, NA18518, NA18499, NA11894, NA10830, NA12249, NA19113, NA18853, NA12827, NA12264, NA19101, NA10852, NA19257, NA12766, NA19225, NA21583, NA19160, NA19095, NA18945, NA18576, NA21302, NA18608, NA19094, NA18978, NA06995, NA19206, NA19183, NA18542, NA18909, NA11881, NA19108, NA18961, NA18952, NA12775, NA19174, NA21425, NA19144, NA21615, NA10840, NA19193, NA18869, NA07037, NA21513, NA18911, NA06986, NA18594, NA19143, NA12708, NA12740, NA19248, NA18971, NA21580, NA21404, NA19173, NA18987, NA12830, NA18506, NA21614, NA21486, NA19096, NA18854, NA21455, NA21312, NA18552, NA21389, NA21490, NA18852, NA07056, NA19224, NA19146, NA18488, NA19148, NA18511, NA07000, NA21514, NA21440, NA18522, NA07034, NA18622, NA19153, NA18562, NA12776, NA18965
Known GenesHLA-DRB1, HLA-DRB6
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515036
Frequency
Sample Size2366
Observed Gain6
Observed Loss340
Observed Complex0
Frequencyn/a


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