A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967105



Internal ID45386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83564303..83564354hg38UCSC Ensembl
chr5:82860122..82860173hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561107
Supporting Variants
Samples
Known GenesVCAN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967105
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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