A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706587



Internal ID130253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24906160..24907486hg38UCSC Ensembl
chr16:24917481..24918807hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381327
hg191327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523912
Supporting Variants
Samples
Known GenesSLC5A11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706587
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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