A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428365



Internal ID11591797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45358027..45469089hg38UCSC Ensembl
Innerchr19:45861285..45972347hg19UCSC Ensembl
Innerchr19:50553125..50664187hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38111063
hg19111063
hg18111063
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453718, nssv453717, nssv453716
SamplesHGDP00474, NA19257, HGDP00462
Known GenesCD3EAP, ERCC1, ERCC2, FOSB, PPP1R13L
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)nsv428365
Frequency
Sample Size62
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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