A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611379



Internal ID16398788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53599930..53604045hg38UCSC Ensembl
Innerchr8:54512490..54516605hg19UCSC Ensembl
Innerchr8:54675043..54679158hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg384116
hg194116
hg184116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1115564
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611379
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