Variant Details

Variant: nsv10707

Internal ID

15498984

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr5:69531125..71365428	hg38	UCSC Ensembl
Outer	chr5:68826952..70661255	hg19	UCSC Ensembl
Outer	chr5:68862708..70697011	hg18	UCSC Ensembl
Outer	chr5:68862708..70697011	hg17	UCSC Ensembl

Cytoband

5q13.2

Allele length

Assembly	Allele length
hg38	1834304
hg19	1834304
hg18	1834304
hg17	1834304

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv14499, nssv14439, nssv13310, nssv12461, nssv13265, nssv15863, nssv14802, nssv13506, nssv15660, nssv15713, nssv12460, nssv13558, nssv13355, nssv13025, nssv13446, nssv13276, nssv14652, nssv14532, nssv13166, nssv13626, nssv15404, nssv13387, nssv13638, nssv13235, nssv13869, nssv13524, nssv13335, nssv12785, nssv14967, nssv14682, nssv13245, nssv13226, nssv13366, nssv12875, nssv15254, nssv13456, nssv13340, nssv13115, nssv15231, nssv12370, nssv13654, nssv12952, nssv13546, nssv14379, nssv12289, nssv13565, nssv13516, nssv15803, nssv15021, nssv14817, nssv14251, nssv13286, nssv13280, nssv12580, nssv15027, nssv13834, nssv13295, nssv14592, nssv13464, nssv15494, nssv14953, nssv12319, nssv12550, nssv13554, nssv15163, nssv13262, nssv15690, nssv14937, nssv13404, nssv15171, nssv13606, nssv13893, nssv13929, nssv13146, nssv12845, nssv13396, nssv13042, nssv13894, nssv13205, nssv12670, nssv12520, nssv14622, nssv13325, nssv13157, nssv13117, nssv13055, nssv13405, nssv14907, nssv12640, nssv12982, nssv14341, nssv13984, nssv13147, nssv15051, nssv14049, nssv12490, nssv13919, nssv13306, nssv13232, nssv14893, nssv14109, nssv13863, nssv12996, nssv14281, nssv12977, nssv13656, nssv13475, nssv13836, nssv13989, nssv13386, nssv13326, nssv13520, nssv13196, nssv13145, nssv14847, nssv13708, nssv13125, nssv15524, nssv13488, nssv15563, nssv14289, nssv14318, nssv13357, nssv13485, nssv13185, nssv13536, nssv15224, nssv13176, nssv13528, nssv13246, nssv15344, nssv13490, nssv15653, nssv15013, nssv12935, nssv15043, nssv13833, nssv13037, nssv12905, nssv14877, nssv12965, nssv13804, nssv13588, nssv13666, nssv15087, nssv13186, nssv15464, nssv13949, nssv13624, nssv13056, nssv13447, nssv14348, nssv15743, nssv14371, nssv15057, nssv13716, nssv15750, nssv14311, nssv13648, nssv14961, nssv13370, nssv14378, nssv14562, nssv14259, nssv13116, nssv15284, nssv13816, nssv13696, nssv13460, nssv15201, nssv14349, nssv13806, nssv13206, nssv15133, nssv13596, nssv12521, nssv13395, nssv12400, nssv13954, nssv15720, nssv14997, nssv13505, nssv13356, nssv13267, nssv14319, nssv15147, nssv15177, nssv13829, nssv12491, nssv13215, nssv13177, nssv13983, nssv13297, nssv14863, nssv13327, nssv13726, nssv13578, nssv13026, nssv13859, nssv15533, nssv13266, nssv14221, nssv13296, nssv13322, nssv15374, nssv13576, nssv15503, nssv14469, nssv13653, nssv13172, nssv13142, nssv15261, nssv12695, nssv15810, nssv12922, nssv13959, nssv13623, nssv13336, nssv13012, nssv13458, nssv14438, nssv13774, nssv13535, nssv13684, nssv14833, nssv12610, nssv15554, nssv15237, nssv14983, nssv13216, nssv13365, nssv13584, nssv12815, nssv13953, nssv13476, nssv13899, nssv13127, nssv13455, nssv13292, nssv13237, nssv15073, nssv13686, nssv13067, nssv13566, nssv15623, nssv13618, nssv14803, nssv12665, nssv13923, nssv14727, nssv14169, nssv12725, nssv13889, nssv13202, nssv15833, nssv13305, nssv15314, nssv13714, nssv15683, nssv13175, nssv13275, nssv13683, nssv14229, nssv13207, nssv14712, nssv15267, nssv12892, nssv15141, nssv13465, nssv14019, nssv13155, nssv12259, nssv13385, nssv13776, nssv13236, nssv13494, nssv15593, nssv13518, nssv15081, nssv13187, nssv12995, nssv13256, nssv14991, nssv14139, nssv13786, nssv13007, nssv12862, nssv13548, nssv13713, nssv13803, nssv15207, nssv14931, nssv13636, nssv14199, nssv13400, nssv14923, nssv13864, nssv13445, nssv13773, nssv13678, nssv13486, nssv13924, nssv13608

Samples

NA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18972, NA18552

Known Genes

GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, OCLN, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2

Method

Oligo aCGH

Analysis

Statistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2

Platform

Agilent-015686 Custom Human 244K CGH Microarray

Comments

Reference

Perry_et_al_2008

Pubmed ID

18304495

Accession Number(s)

nsv10707

Frequency

Sample Size	31
Observed Gain	29
Observed Loss	13
Observed Complex	0
Frequency	n/a