A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704564



Internal ID128230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11330071..11330122hg38UCSC Ensembl
chr16:11423928..11423979hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426597
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704564
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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