A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694993



Internal ID15084959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52025620..52114217hg38UCSC Ensembl
Innerchr3:52059636..52148233hg19UCSC Ensembl
Innerchr3:52034676..52123273hg18UCSC Ensembl
Innerchr3:52034676..52123273hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3888598
hg1988598
hg1888598
hg1788598
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519445
Supporting Variants
Samples
Known GenesDUSP7, LINC00696, POC1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694993
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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