A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599288



Internal ID16386697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106050008..106079457hg38UCSC Ensembl
Innerchr5:105385709..105415158hg19UCSC Ensembl
Innerchr5:105413608..105443057hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3829450
hg1929450
hg1829450
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039770
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599288
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