A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702583



Internal ID15092549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128369127..128378976hg38UCSC Ensembl
Innerchr2:129126701..129136550hg19UCSC Ensembl
Innerchr2:128843171..128853020hg18UCSC Ensembl
Innerchr2:128842931..128852780hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg389850
hg199850
hg189850
hg179850
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516672
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702583
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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