A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723658



Internal ID147324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46433422..46464414hg38UCSC Ensembl
chr19:46936679..46967671hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3830993
hg1930993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518812
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723658
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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