A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453903



Internal ID18620508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13262211..13647951hg38UCSC Ensembl
Innerchr21:14634532..15020272hg19UCSC Ensembl
Innerchr21:13556403..13942143hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38385741
hg19385741
hg18385741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428383
Supporting Variants
SamplesHGDP00478
Known GenesLOC100288966, MIR3156-3, POTED
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)nssv453903
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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