A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702554



Internal ID15439206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52932564..53033058hg38UCSC Ensembl
Innerchr2:53159702..53260196hg19UCSC Ensembl
Innerchr2:53013206..53113700hg18UCSC Ensembl
Innerchr2:53071353..53171847hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38100495
hg19100495
hg18100495
hg17100495
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520722
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702554
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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