A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450323



Internal ID18275108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3576505..3787400hg38UCSC Ensembl
Innerchr5:3576619..3787514hg19UCSC Ensembl
Innerchr5:3629619..3840514hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38210896
hg19210896
hg18210896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428461
Supporting Variants
SamplesNA19189
Known GenesIRX1
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)nssv450323
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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