A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726071



Internal ID149737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16764954..16765005hg38UCSC Ensembl
chr21:18137273..18137324hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417341
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726071
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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