A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978569



Internal ID53085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169484923..169484923hg38UCSC Ensembl
chr5:168911927..168911927hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401591
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978569
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.315105


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