A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428826



Internal ID207684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50860289..50860340hg38UCSC Ensembl
chr19:51363545..51363596hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725342
Samples
Known GenesKLK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428826
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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