A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428260



Internal ID18278024
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 StatusM
Merged Variants
Supporting Variantsnssv452127, nssv452128
SamplesNA19113, HGDP00449
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)nsv428260
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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