A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679483



Internal ID15069449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143533025..143582424hg38UCSC Ensembl
Innerchr8:144615195..144664594hg19UCSC Ensembl
Innerchr8:144686338..144735737hg18UCSC Ensembl
Innerchr8:144686338..144735737hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3849400
hg1949400
hg1849400
hg1749400
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516210
Supporting Variants
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, ZC3H3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679483
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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