A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428271



Internal ID18278035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9407491..9678072hg38UCSC Ensembl
Innerchr12:9560087..9830668hg19UCSC Ensembl
Innerchr12:9451354..9721935hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38270582
hg19270582
hg18270582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452260, nssv452259, nssv452257, nssv452252, nssv452256, nssv452251, nssv452254, nssv452255, nssv452261, nssv452258
SamplesHGDP00462, NA18916, NA19189, NA19113, NA19225, NA19108, NA19147, HGDP00984, HGDP00474, HGDP00471
Known GenesCLEC2D, DDX12P, KLRB1, LOC374443
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)nsv428271
Frequency
Sample Size62
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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