A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706779



Internal ID130445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2496789..2496936hg38UCSC Ensembl
chr16:2546790..2546937hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527232
Supporting Variants
Samples
Known GenesTBC1D24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706779
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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