A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv665969



Internal ID15402621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53617765..53623245hg38UCSC Ensembl
Innerchr2:53844902..53850382hg19UCSC Ensembl
Innerchr2:53698406..53703886hg18UCSC Ensembl
Innerchr2:53756553..53762033hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg385481
hg195481
hg185481
hg175481
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516185
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv665969
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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