A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428196



Internal ID18277960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18219826..18542377hg38UCSC Ensembl
Innerchr8:18077335..18399887hg19UCSC Ensembl
Innerchr8:18121615..18444167hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38322552
hg19322553
hg18322553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451472
SamplesHGDP01093
Known GenesNAT1, NAT2, PSD3
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)nsv428196
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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