A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454125



Internal ID18273343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168301712..168627188hg38UCSC Ensembl
Innerchr2:169158222..169483698hg19UCSC Ensembl
Innerchr2:168866468..169191944hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38325477
hg19325477
hg18325477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428405
Supporting Variants
SamplesHGDP00463
Known GenesCERS6, MIR4774
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)nssv454125
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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