A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610293



Internal ID16051016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11841238..12072225hg38UCSC Ensembl
Innerchr8:11698747..11929734hg19UCSC Ensembl
Innerchr8:11736156..11967143hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38230988
hg19230988
hg18230988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1106579
Samples
Known GenesCTSB, DEFB130, DEFB134, DEFB135, DEFB136, LOC100133267
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610293
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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