A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699476



Internal ID15089442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7379825..7549660hg38UCSC Ensembl
Innerchr17:7283144..7452977hg19UCSC Ensembl
Innerchr17:7223868..7393701hg18UCSC Ensembl
Innerchr17:7223868..7393701hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38169836
hg19169834
hg18169834
hg17169834
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523672
Supporting Variants
Samples
Known GenesC17orf74, CHRNB1, FGF11, NLGN2, PLSCR3, POLR2A, SLC35G6, SPEM1, TMEM102, TMEM256, TMEM256-PLSCR3, TNFSF12, TNFSF12-TNFSF13, TNK1, ZBTB4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699476
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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