A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732672



Internal ID156338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46405980..46406091hg38UCSC Ensembl
chr20:45034619..45034730hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527984
Supporting Variants
Samples
Known GenesELMO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732672
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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