A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450640



Internal ID18273003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31060513..31264810hg38UCSC Ensembl
Innerchr6:31028290..31232587hg19UCSC Ensembl
Innerchr6:31136269..31340566hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38204298
hg19204298
hg18204298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428140
Supporting Variants
SamplesHGDP00449
Known GenesC6orf15, CCHCR1, CDSN, HCG27, POU5F1, PSORS1C1, PSORS1C2, PSORS1C3, TCF19
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv450640
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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