A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685875



Internal ID15422527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:85793..242800hg38UCSC Ensembl
Innerchr2:85793..242800hg19UCSC Ensembl
Innerchr2:75793..232800hg18UCSC Ensembl
Innerchr2:75793..232800hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38157008
hg19157008
hg18157008
hg17157008
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519763
Supporting Variants
Samples
Known GenesSH3YL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685875
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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