A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1027500



Internal ID16321456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:23884331..23904923hg38UCSC Ensembl
Innerchr5:23884440..23905032hg19UCSC Ensembl
Innerchr5:23920197..23940789hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3820593
hg1920593
hg1820593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597547
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1027500
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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