A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428139



Internal ID18277903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29691748..29924540hg38UCSC Ensembl
Innerchr6:29659525..29892317hg19UCSC Ensembl
Innerchr6:29767504..30000296hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38232793
hg19232793
hg18232793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450628, nssv450623, nssv450629, nssv450622, nssv450624, nssv450627
SamplesHGDP00462, NA18498, NA19189, NA19257, NA19108, NA19096
Known GenesHCG4, HLA-F, HLA-F-AS1, HLA-G, HLA-H, IFITM4P, LOC554223
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)nsv428139
Frequency
Sample Size62
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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