A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723683



Internal ID147349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46717219..46717263hg38UCSC Ensembl
chr19:47220476..47220520hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547398
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723683
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.016613


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