A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709377



Internal ID133043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47556682..47629000hg38UCSC Ensembl
chr16:47590593..47662911hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3872319
hg1972319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516763
Supporting Variants
Samples
Known GenesPHKB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709377
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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