A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428113



Internal ID18624563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83031193..83542628hg38UCSC Ensembl
Innerchr1:83496876..84008311hg19UCSC Ensembl
Innerchr1:83269464..83780899hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38511436
hg19511436
hg18511436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450476, nssv450487
SamplesNA18498, NA19181
Known Genes
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)nsv428113
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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