A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694427



Internal ID15431079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47982847..47990413hg38UCSC Ensembl
Innerchr2:48209986..48217552hg19UCSC Ensembl
Innerchr2:48063490..48071056hg18UCSC Ensembl
Innerchr2:48121637..48129203hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg387567
hg197567
hg187567
hg177567
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519761
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694427
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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