A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450585



Internal ID18273669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:198357..653718hg38UCSC Ensembl
Innerchr6:198357..653718hg19UCSC Ensembl
Innerchr6:143357..598718hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38455362
hg19455362
hg18455362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428134
Supporting Variants
SamplesHGDP00474
Known GenesDUSP22, EXOC2, IRF4
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)nssv450585
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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