A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732583



Internal ID156249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44887778..44887829hg38UCSC Ensembl
chr20:43516419..43516470hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423598
Supporting Variants
Samples
Known GenesYWHAB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732583
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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