A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597548



Internal ID16384957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:23884331..23904973hg38UCSC Ensembl
Innerchr5:23884440..23905082hg19UCSC Ensembl
Innerchr5:23920197..23940839hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3820643
hg1920643
hg1820643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9672n54
Supporting Variantsnssv1027501
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597548
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