A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972784



Internal ID49221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117620240..117653698hg38UCSC Ensembl
chr5:116955935..116989393hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3833459
hg1933459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468841
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972784
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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