A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966955



Internal ID45299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79115421..79115472hg38UCSC Ensembl
chr5:78411244..78411295hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402504
Supporting Variants
Samples
Known GenesBHMT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966955
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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