A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450523



Internal ID18274760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150720442..150906180hg38UCSC Ensembl
Innerchr5:150100004..150285742hg19UCSC Ensembl
Innerchr5:150080197..150265935hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38185739
hg19185739
hg18185739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428129
Supporting Variants
SamplesNA19108
Known GenesDCTN4, IRGM, SMIM3, ZNF300
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)nssv450523
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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