A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470262



Internal ID6059565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5522556..6243616hg19UCSC Ensembl
Innerchr12:5392817..6113877hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv546873
SamplesHGDP01276
Known GenesANO2, NTF3, VWF
Method
AnalysisOverlapping CNVs were merged. The positions are based on the farthest SNPs observed anomg any individuals with the CNV.
PlatformIllumina HumanHap550 Genotyping BeadChip v1 + v3
CommentsSingle-copy duplication
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv470262
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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