A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470972



Internal ID6059517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122907898..123241793hg19UCSC Ensembl
Innerchr10:122897888..123231783hg18UCSC Ensembl
Cytoband10q26.12
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 Variantsnssv545003
SamplesHGDP00449
Known GenesFGFR2
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)nsv470972
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