A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450682



Internal ID18274232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32403976..32737657hg38UCSC Ensembl
Innerchr6:32371753..32705434hg19UCSC Ensembl
Innerchr6:32479731..32813412hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38333682
hg19333682
hg18333682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428142
Supporting Variants
SamplesHGDP01089
Known GenesBTNL2, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6
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)nssv450682
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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