A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470586



Internal ID6059758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40514201..40611288hg19UCSC Ensembl
Innerchr17:37767727..37864814hg18UCSC Ensembl
Cytoband17q21.2
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 Variantsnssv547473
SamplesHGDP00641
Known GenesATP6V0A1, PTRF, STAT3
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)nsv470586
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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