A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725296



Internal ID148962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45201960..45208557hg38UCSC Ensembl
chr19:45705218..45711815hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg386598
hg196598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533872
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725296
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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