A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470809



Internal ID6060506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31496915..31544189hg19UCSC Ensembl
Innerchr6:31604894..31652168hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv544475
SamplesHGDP00697
Known GenesATP6V1G2, ATP6V1G2-DDX39B, DDX39B, LTA, MCCD1, NFKBIL1, SNORD117, SNORD84, TNF
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)nsv470809
Frequency
Sample Size443
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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