A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732668



Internal ID156334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46382057..46382107hg38UCSC Ensembl
chr20:45010696..45010746hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550511
Supporting Variants
Samples
Known GenesELMO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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