A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966854



Internal ID45240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71393971..71402217hg38UCSC Ensembl
chr5:70689798..70698044hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg388247
hg198247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462736
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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