A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684477



Internal ID15421129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75210056..75276744hg38UCSC Ensembl
Innerchr2:75437182..75503870hg19UCSC Ensembl
Innerchr2:75290690..75357378hg18UCSC Ensembl
Innerchr2:75348837..75415525hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3866689
hg1966689
hg1866689
hg1766689
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516509
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684477
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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