A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450723



Internal ID18274330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32535132..32574849hg38UCSC Ensembl
Innerchr6:32502909..32542626hg19UCSC Ensembl
Innerchr6:32610887..32650604hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3839718
hg1939718
hg1839718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428142
Supporting Variants
SamplesHGDP01093
Known GenesHLA-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)nssv450723
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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