A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967510



Internal ID45655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72339706..72339706hg38UCSC Ensembl
chr5:71635533..71635533hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411092
Supporting Variants
Samples
Known GenesPTCD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.064841


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