A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706579



Internal ID130245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24729717..24729735hg38UCSC Ensembl
chr16:24741038..24741056hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5546503
Supporting Variants
Samples
Known GenesTNRC6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706579
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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