A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394518



Internal ID22452388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50940245..50950980hg38UCSC Ensembl
chr19:51443501..51454236hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3810736
hg1910736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932380
Supporting Variants
Samples
Known GenesKLK5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394518
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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