A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450953



Internal ID18620721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116622293..116732053hg38UCSC Ensembl
Innerchr1:117164915..117274675hg19UCSC Ensembl
Innerchr1:116966438..117076198hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38109761
hg19109761
hg18109761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428190
Supporting Variants
SamplesHGDP01086
Known GenesC1orf137, IGSF3, MIR320B1
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)nssv450953
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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