A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923859



Internal ID16670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217782160..217832277hg38UCSC Ensembl
chr2:218646883..218697000hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3850118
hg1950118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438726
Supporting Variants
Samples
Known GenesTNS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923859
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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