A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975529



Internal ID51079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:145233082..145233133hg38UCSC Ensembl
chr5:144612645..144612696hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397310
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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