A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598939



Internal ID16386348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:92672576..92718442hg38UCSC Ensembl
Innerchr5:92008283..92054149hg19UCSC Ensembl
Innerchr5:92034039..92079905hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3845867
hg1945867
hg1845867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153047
Samples1780854061_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598939
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