A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450685



Internal ID18621819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32403976..32799575hg38UCSC Ensembl
Innerchr6:32371753..32767352hg19UCSC Ensembl
Innerchr6:32479731..32875330hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38395600
hg19395600
hg18395600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428142
Supporting Variants
SamplesNA19189
Known GenesBTNL2, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, 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)nssv450685
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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