A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596908



Internal ID16384317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:2186842..2254181hg38UCSC Ensembl
Innerchr5:2186956..2254295hg19UCSC Ensembl
Innerchr5:2239956..2307295hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3867340
hg1967340
hg1867340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023659
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596908
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