A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598742



Internal ID16039465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79507955..79617020hg38UCSC Ensembl
Innerchr5:78803778..78912843hg19UCSC Ensembl
Innerchr5:78839534..78948599hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38109066
hg19109066
hg18109066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153940
Samples1798860114_A
Known GenesHOMER1, PAPD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598742
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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