A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972096



Internal ID48765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103523785..103524011hg38UCSC Ensembl
chr5:102859486..102859712hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471524
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972096
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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