A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428190



Internal ID18624640
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 StatusM
Merged Variants
Supporting Variantsnssv450953, nssv450975, nssv450997, nssv450964, nssv450986, nssv451008
SamplesHGDP01087, HGDP01088, NA19181, NA19147, HGDP01094, HGDP01086
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)nsv428190
Frequency
Sample Size62
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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