A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972747



Internal ID49196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117316251..117316374hg38UCSC Ensembl
chr5:116651947..116652070hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471771
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.064783


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