A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734167



Internal ID157833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18022950..18023001hg38UCSC Ensembl
chr21:19395267..19395318hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416578
Supporting Variants
Samples
Known GenesCHODL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734167
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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