A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696402



Internal ID15433054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76352944..76359993hg38UCSC Ensembl
Innerchr2:76580070..76587119hg19UCSC Ensembl
Innerchr2:76433578..76440627hg18UCSC Ensembl
Innerchr2:76491725..76498774hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg387050
hg197050
hg187050
hg177050
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519947
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696402
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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