A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv656217



Internal ID15046183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51970301..52333916hg38UCSC Ensembl
Innerchr3:52004317..52367932hg19UCSC Ensembl
Innerchr3:51979357..52342972hg18UCSC Ensembl
Innerchr3:51979357..52342972hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38363616
hg19363616
hg18363616
hg17363616
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519445
Supporting Variants
Samples
Known GenesABHD14A, ABHD14A-ACY1, ABHD14B, ACY1, ALAS1, DNAH1, DUSP7, GLYCTK, LINC00696, MIR135A1, MIRLET7G, POC1A, PPM1M, RPL29, TLR9, TWF2, WDR82
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv656217
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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