A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725483



Internal ID149149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54079068..54109847hg38UCSC Ensembl
chr19:54582333..54613230hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3830780
hg1930898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527565
Supporting Variants
Samples
Known GenesNDUFA3, OSCAR, TARM1, TFPT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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