A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450497



Internal ID18621032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:124021942..124186645hg38UCSC Ensembl
Innerchr5:123357635..123522338hg19UCSC Ensembl
Innerchr5:123385534..123550237hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38164704
hg19164704
hg18164704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428126
Supporting Variants
SamplesHGDP01093
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)nssv450497
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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