A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972762



Internal ID49207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117427390..117427390hg38UCSC Ensembl
chr5:116763086..116763086hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408223
Supporting Variants
Samples
Known GenesLINC00992
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.049561


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