A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725350



Internal ID149016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50940245..50950982hg38UCSC Ensembl
chr19:51443501..51454238hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3810738
hg1910738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515213
Supporting Variants
Samples
Known GenesKLK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725350
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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