A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv517019

Internal ID

15097626

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:13511552..14801106	hg38	UCSC Ensembl
Inner	chr8:13369061..14658615	hg19	UCSC Ensembl
Inner	chr8:13413432..14702986	hg18	UCSC Ensembl
Inner	chr8:13413432..14702986	hg17	UCSC Ensembl

Cytoband

8p22

Allele length

Assembly	Allele length
hg38	1289555
hg19	1289555
hg18	1289555
hg17	1289555

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv692997, nssv704094, nssv662785, nssv677684, nssv664176, nssv697095, nssv664150, nssv673545, nssv683658, nssv695465, nssv681398, nssv663911, nssv661309, nssv674445, nssv657569, nssv654024, nssv684773, nssv684086, nssv688274, nssv673913, nssv693922, nssv686235, nssv675458, nssv666838, nssv666932, nssv659119, nssv688802, nssv680527, nssv692724, nssv686120, nssv661889, nssv670521, nssv688945, nssv685320, nssv655698, nssv681095, nssv660550, nssv671862, nssv678284, nssv676702, nssv682407, nssv684307, nssv679288, nssv656816, nssv686282, nssv655596, nssv665002, nssv654335, nssv664663, nssv687733, nssv673740, nssv657796, nssv666357, nssv681615, nssv677760, nssv659970, nssv658687, nssv667480, nssv682747, nssv677039, nssv685854, nssv696647, nssv659861, nssv654487, nssv683765, nssv675652, nssv666805, nssv666575, nssv662064, nssv687970, nssv681793, nssv673610, nssv662348, nssv677008, nssv659582, nssv662478, nssv662335, nssv653652, nssv675684, nssv659233, nssv685217, nssv679482, nssv674488, nssv678956, nssv659644, nssv676329, nssv686236, nssv665370, nssv703076, nssv672096, nssv682408, nssv678654, nssv686325, nssv674184, nssv686654, nssv684703, nssv690824, nssv665814, nssv658237, nssv701353, nssv657433, nssv691279, nssv656464, nssv664052, nssv676064, nssv691927, nssv664935, nssv692954, nssv670185, nssv698201, nssv683816, nssv674516, nssv658701, nssv653806, nssv665001, nssv670500, nssv693821, nssv676495, nssv660605, nssv671160, nssv664462, nssv668462, nssv705781, nssv680403, nssv659444, nssv663592, nssv694963, nssv690806, nssv668067, nssv679657, nssv653610, nssv688676, nssv678024, nssv660702, nssv676125, nssv673231, nssv671247, nssv652793, nssv682363, nssv658632, nssv657286, nssv674430, nssv687038, nssv675286, nssv674727, nssv667762, nssv667988, nssv653589, nssv703525, nssv683215, nssv676288, nssv681983, nssv652678, nssv662224, nssv684306, nssv691134, nssv690358, nssv688918, nssv674324, nssv689347, nssv664071, nssv661730, nssv664017, nssv692570, nssv689226, nssv678059, nssv671655, nssv666060, nssv653520, nssv691561, nssv663313, nssv680945, nssv669875, nssv691860, nssv681542, nssv685390, nssv665981, nssv659344, nssv664070, nssv689930, nssv653509, nssv659445, nssv664716, nssv670131, nssv657448, nssv672750, nssv651757, nssv689529, nssv666086, nssv653557, nssv676331, nssv664600, nssv690024, nssv671138, nssv668068, nssv660314, nssv660001, nssv661630, nssv676948, nssv667272, nssv696026, nssv664177, nssv661800, nssv675189, nssv658272, nssv684245, nssv657601, nssv692338, nssv680864, nssv676189, nssv669676, nssv665141, nssv661089, nssv653524, nssv687948, nssv652210, nssv675273, nssv659079, nssv653711, nssv655416, nssv694811, nssv667587, nssv659028, nssv667479, nssv675244, nssv657628, nssv672515, nssv677434, nssv695521, nssv653177, nssv685572, nssv661949, nssv663138, nssv655595, nssv690055, nssv692038, nssv658986, nssv662035, nssv692998, nssv666861, nssv668980, nssv667987, nssv654042, nssv690875, nssv676949, nssv697238, nssv677885, nssv694268, nssv690275, nssv653198, nssv661457, nssv674883, nssv657307, nssv657266, nssv673814, nssv665641

Samples

Known Genes

C8orf48, DLC1, SGCZ

Method

SNP array

Analysis

Sample-level CNVs

Platform

GPL6434

Comments

Reference

Shaikh_et_al_2009

Pubmed ID

Accession Number(s)

Frequency

Sample Size	2026
Observed Gain	3
Observed Loss	254
Observed Complex	0
Frequency	n/a