A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597374



Internal ID16384783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18654010..18696725hg38UCSC Ensembl
Innerchr5:18654119..18696834hg19UCSC Ensembl
Innerchr5:18689876..18732591hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3842716
hg1942716
hg1842716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026412
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597374
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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