A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452128



Internal ID18274818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67757466..68030202hg38UCSC Ensembl
Innerchr11:67524937..67797669hg19UCSC Ensembl
Innerchr11:67281513..67554245hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38272737
hg19272733
hg18272733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428260
Supporting Variants
SamplesNA19113
Known GenesALDH3B1, FAM86C2P, UNC93B1
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)nssv452128
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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