A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470610



Internal ID6059422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76969882..77087805hg19UCSC Ensembl
Innerchr17:74481477..74599400hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv547515, nssv547514, nssv547511, nssv547510, nssv547513
SamplesHGDP00288, HGDP00298, HGDP00290, HGDP00825, HGDP00661
Known GenesC1QTNF1, CANT1, ENGASE, LGALS3BP, LOC100507410, RBFOX3
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
Comments
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv470610
Frequency
Sample Size443
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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