A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515213



Internal ID291697
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 StatusM
Merged Variants
Supporting Variantsnssv17725350
Samples
Known GenesKLK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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