A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721936



Internal ID145602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17331935..17339758hg38UCSC Ensembl
chr19:17442744..17450567hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg387824
hg197824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520768
Supporting Variants
Samples
Known GenesANO8, GTPBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721936
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.047626


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