A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706000



Internal ID129666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55884996..55886294hg38UCSC Ensembl
chr16:55918908..55920206hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381299
hg191299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516561
Supporting Variants
Samples
Known GenesCES5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706000
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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