A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732299



Internal ID155965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38296000..38464625hg38UCSC Ensembl
chr20:36924402..37093268hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38168626
hg19168867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517581
Supporting Variants
Samples
Known GenesBPI, LBP, SNHG11, SNHG17, SNORA39, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732299
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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