A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694607



Internal ID15431259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:66256503..66259359hg38UCSC Ensembl
Innerchr2:66483635..66486491hg19UCSC Ensembl
Innerchr2:66337139..66339995hg18UCSC Ensembl
Innerchr2:66395286..66398142hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382857
hg192857
hg182857
hg172857
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521834
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694607
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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