A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv667066



Internal ID15403718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53617765..53618782hg38UCSC Ensembl
Innerchr2:53844902..53845919hg19UCSC Ensembl
Innerchr2:53698406..53699423hg18UCSC Ensembl
Innerchr2:53756553..53757570hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381018
hg191018
hg181018
hg171018
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)nssv667066
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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