A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731379



Internal ID155045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18638335..18646335hg38UCSC Ensembl
chr20:18618979..18626979hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146850
Supporting Variants
Samples
Known GenesDTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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