A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10707



Internal ID15498984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69531125..71365428hg38UCSC Ensembl
Outerchr5:68826952..70661255hg19UCSC Ensembl
Outerchr5:68862708..70697011hg18UCSC Ensembl
Outerchr5:68862708..70697011hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381834304
hg191834304
hg181834304
hg171834304
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13187, nssv13172, nssv13142, nssv15554, nssv13566, nssv15404, nssv15803, nssv13618, nssv14341, nssv12550, nssv13653, nssv13803, nssv14877, nssv14019, nssv13488, nssv14049, nssv12995, nssv13624, nssv12491, nssv13196, nssv13833, nssv13654, nssv13280, nssv15021, nssv13683, nssv13145, nssv12982, nssv13177, nssv13445, nssv13256, nssv15314, nssv13175, nssv13025, nssv13232, nssv13506, nssv15713, nssv13245, nssv13385, nssv13475, nssv13686, nssv15660, nssv15171, nssv13235, nssv13923, nssv15231, nssv13325, nssv13116, nssv15743, nssv13326, nssv15207, nssv13207, nssv14712, nssv15057, nssv14109, nssv14379, nssv15224, nssv12935, nssv13623, nssv15267, nssv15750, nssv12521, nssv13405, nssv14281, nssv14923, nssv12695, nssv12892, nssv14727, nssv14983, nssv13859, nssv13125, nssv13147, nssv13042, nssv13296, nssv15503, nssv13894, nssv13117, nssv15147, nssv12640, nssv13776, nssv14961, nssv13465, nssv13336, nssv14199, nssv13893, nssv13869, nssv13115, nssv14318, nssv14622, nssv13716, nssv13155, nssv14348, nssv13486, nssv13366, nssv13055, nssv12580, nssv15043, nssv13067, nssv13166, nssv13929, nssv13305, nssv14931, nssv13365, nssv13355, nssv15261, nssv15690, nssv12289, nssv13953, nssv13186, nssv13490, nssv13356, nssv13286, nssv13524, nssv15237, nssv15833, nssv13804, nssv13322, nssv14652, nssv13535, nssv13056, nssv13237, nssv14953, nssv14937, nssv13292, nssv15533, nssv13714, nssv13335, nssv13310, nssv13919, nssv12490, nssv13458, nssv14438, nssv14997, nssv12875, nssv13773, nssv15593, nssv14469, nssv13276, nssv13834, nssv15051, nssv12460, nssv13638, nssv13297, nssv13648, nssv15027, nssv13386, nssv13206, nssv13696, nssv13387, nssv14847, nssv12670, nssv13558, nssv14289, nssv12905, nssv13357, nssv12461, nssv13684, nssv13396, nssv13215, nssv13863, nssv14562, nssv15810, nssv13528, nssv13455, nssv12965, nssv13205, nssv14319, nssv13505, nssv14499, nssv13202, nssv13176, nssv13786, nssv13464, nssv13447, nssv12922, nssv13713, nssv13395, nssv12845, nssv13026, nssv13340, nssv14259, nssv13267, nssv14682, nssv15254, nssv15081, nssv13476, nssv13984, nssv15177, nssv15683, nssv14967, nssv13708, nssv15073, nssv15720, nssv13226, nssv13327, nssv13246, nssv13554, nssv13185, nssv15563, nssv13216, nssv13456, nssv14802, nssv13037, nssv14139, nssv12815, nssv13889, nssv14311, nssv13520, nssv13012, nssv12725, nssv13596, nssv14251, nssv15163, nssv13518, nssv12520, nssv14229, nssv12862, nssv15374, nssv14863, nssv13565, nssv14378, nssv15653, nssv13726, nssv13485, nssv14833, nssv13516, nssv13959, nssv15133, nssv13588, nssv14439, nssv13584, nssv14893, nssv15087, nssv13576, nssv13446, nssv13899, nssv13548, nssv14803, nssv13829, nssv15863, nssv13954, nssv13370, nssv12370, nssv13265, nssv13236, nssv14371, nssv13774, nssv13400, nssv15284, nssv13578, nssv14991, nssv13266, nssv13636, nssv13924, nssv13626, nssv13295, nssv14592, nssv12319, nssv15013, nssv13949, nssv13404, nssv14907, nssv13146, nssv13262, nssv12996, nssv15623, nssv12785, nssv13806, nssv14532, nssv14817, nssv14349, nssv13989, nssv13816, nssv13546, nssv12952, nssv13157, nssv15201, nssv12400, nssv13494, nssv14169, nssv15344, nssv14221, nssv13007, nssv13864, nssv15494, nssv13608, nssv13836, nssv13127, nssv13275, nssv13678, nssv13536, nssv13983, nssv13656, nssv13460, nssv15464, nssv13306, nssv15141, nssv13666, nssv15524, nssv12665, nssv13606, nssv12259, nssv12977, nssv12610
SamplesNA12802, NA18975, NA19173, NA10839, NA10847, NA18972, NA18517, NA19144, NA18860, NA07029, NA10863, NA12155, NA18563, NA12740, NA07048, NA18537, NA18572, NA18502, NA12872, NA18504, NA18564, NA18942, NA19221, NA18552, NA19132, NA11830, NA19240, NA18853, NA19007, NA18980
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, OCLN, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10707
Frequency
Sample Size31
Observed Gain29
Observed Loss13
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer