A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451566



Internal ID18274241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85493249..85974474hg38UCSC Ensembl
Innerchr8:86405478..86986703hg19UCSC Ensembl
Innerchr8:86592730..87055819hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38481226
hg19581226
hg18463090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428204
Supporting Variants
SamplesHGDP01089
Known GenesREXO1L1, REXO1L2P
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)nssv451566
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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