A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450628



Internal ID18274781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29824657..29924540hg38UCSC Ensembl
Innerchr6:29792434..29892317hg19UCSC Ensembl
Innerchr6:29900413..30000296hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3899884
hg1999884
hg1899884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428139
Supporting Variants
SamplesNA19108
Known GenesHLA-G, HLA-H
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)nssv450628
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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