A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683522



Internal ID15073488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142100008..142353090hg38UCSC Ensembl
Innerchr3:141818850..142071932hg19UCSC Ensembl
Innerchr3:143301540..143554622hg18UCSC Ensembl
Innerchr3:143301548..143554630hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38253083
hg19253083
hg18253083
hg17253083
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)nssv683522
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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