A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598152



Internal ID16385561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52037296..52129677hg38UCSC Ensembl
Innerchr5:51333130..51425511hg19UCSC Ensembl
Innerchr5:51368887..51461268hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3892382
hg1992382
hg1892382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9783n54
Supporting Variantsnssv1030336, nssv1030337
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598152
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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