A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679761



Internal ID15069727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142103779..142391976hg38UCSC Ensembl
Innerchr3:141822621..142110818hg19UCSC Ensembl
Innerchr3:143305311..143593508hg18UCSC Ensembl
Innerchr3:143305319..143593516hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38288198
hg19288198
hg18288198
hg17288198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520523
Supporting Variants
Samples
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679761
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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