A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454205



Internal ID18620388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241961306..242129818hg38UCSC Ensembl
Innerchr2:242903457..243071969hg19UCSC Ensembl
Innerchr2:242552130..242720642hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38168513
hg19168513
hg18168513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428411
Supporting Variants
SamplesHGDP00474
Known GenesLOC728323
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)nssv454205
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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