A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453890



Internal ID18273299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10346944..10614625hg38UCSC Ensembl
Innerchr21:10897832..11165513hg19UCSC Ensembl
Innerchr21:9919703..10187384hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38267682
hg19267682
hg18267682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428382
Supporting Variants
SamplesHGDP00462
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5, TPTE
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)nssv453890
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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