A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967394



Internal ID45567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69230853..69231301hg38UCSC Ensembl
chr5:68526680..68527128hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473900
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967394
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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