A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697791



Internal ID15087757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8829358..8890412hg38UCSC Ensembl
Innerchr16:8923215..8984269hg19UCSC Ensembl
Innerchr16:8830716..8891770hg18UCSC Ensembl
Innerchr16:8830716..8891770hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3861055
hg1961055
hg1861055
hg1761055
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521109
Supporting Variants
Samples
Known GenesCARHSP1, PMM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697791
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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