A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701772



Internal ID15438424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53617765..53618536hg38UCSC Ensembl
Innerchr2:53844902..53845673hg19UCSC Ensembl
Innerchr2:53698406..53699177hg18UCSC Ensembl
Innerchr2:53756553..53757324hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38772
hg19772
hg18772
hg17772
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)nssv701772
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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