A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723653



Internal ID147319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46396532..46396583hg38UCSC Ensembl
chr19:46899789..46899840hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433384
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002033


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