A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682265



Internal ID15418917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207491066..207491485hg38UCSC Ensembl
Innerchr2:208355790..208356209hg19UCSC Ensembl
Innerchr2:208064035..208064454hg18UCSC Ensembl
Innerchr2:208181296..208181715hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38420
hg19420
hg18420
hg17420
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515619
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682265
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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