A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597404



Internal ID16384813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:19009899..19271224hg38UCSC Ensembl
Innerchr5:19010008..19271333hg19UCSC Ensembl
Innerchr5:19045765..19307090hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38261326
hg19261326
hg18261326
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9639n54
Supporting Variantsnssv1026470
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597404
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