A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596927



Internal ID16384336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3595341..3596366hg38UCSC Ensembl
Innerchr5:3595455..3596480hg19UCSC Ensembl
Innerchr5:3648455..3649480hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381026
hg191026
hg181026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023684
Samples
Known GenesIRX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596927
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