A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428312



Internal ID18624762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225217249..225339076hg38UCSC Ensembl
Innerchr1:225404951..225526778hg19UCSC Ensembl
Innerchr1:223471574..223593401hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38121828
hg19121828
hg18121828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453008, nssv452997
SamplesNA19108, HGDP00984
Known GenesDNAH14
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)nsv428312
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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