A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724427



Internal ID148093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58166719..58166770hg38UCSC Ensembl
chr19:58678086..58678137hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422687
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724427
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004215


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