A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697621



Internal ID15434273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5723022..5724528hg38UCSC Ensembl
Innerchr2:5863154..5864660hg19UCSC Ensembl
Innerchr2:5780605..5782111hg18UCSC Ensembl
Innerchr2:5813752..5815258hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg381507
hg191507
hg181507
hg171507
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520803
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697621
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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