A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428123



Internal ID18624573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106140234..106689649hg38UCSC Ensembl
Innerchr5:105475935..106025350hg19UCSC Ensembl
Innerchr5:105503834..106053249hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38549416
hg19549416
hg18549416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450491
SamplesHGDP00450
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)nsv428123
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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