A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv655813



Internal ID15392465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128637168..128637541hg38UCSC Ensembl
Innerchr2:129394742..129395115hg19UCSC Ensembl
Innerchr2:129111212..129111585hg18UCSC Ensembl
Innerchr2:129110972..129111345hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38374
hg19374
hg18374
hg17374
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516422
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv655813
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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