A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471011



Internal ID6060281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35861068..36003217hg19UCSC Ensembl
Innerchr5:35896825..36038974hg18UCSC Ensembl
Cytoband5p13.2
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 Variantsnssv545115
SamplesHGDP00987
Known GenesCAPSL, IL7R, UGT3A1
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)nsv471011
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer