A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428121



Internal ID18624571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104441976..104758944hg38UCSC Ensembl
Innerchr5:103777677..104094645hg19UCSC Ensembl
Innerchr5:103805576..104122544hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38316969
hg19316969
hg18316969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450489
SamplesHGDP00460
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)nsv428121
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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