A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428373



Internal ID18624823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:79360..83302hg38UCSC Ensembl
Innerchr20:60001..63943hg19UCSC Ensembl
Innerchr20:8001..11943hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383943
hg193943
hg183943
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453813, nssv453812, nssv453814
SamplesHGDP01093, HGDP01094, HGDP00449
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)nsv428373
Frequency
Sample Size62
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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