A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923867



Internal ID16676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217937091..217937135hg38UCSC Ensembl
chr2:218801814..218801858hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400041
Supporting Variants
Samples
Known GenesTNS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923867
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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