A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732669



Internal ID156335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46390832..46390883hg38UCSC Ensembl
chr20:45019471..45019522hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416795
Supporting Variants
Samples
Known GenesELMO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732669
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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