A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725344



Internal ID149010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50893568..50897189hg38UCSC Ensembl
chr19:51396824..51400445hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383622
hg193622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514758
Supporting Variants
Samples
Known GenesKLKP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725344
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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