A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684723



Internal ID108389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116964470..116980345hg38UCSC Ensembl
chr12:117402275..117418150hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3815876
hg1915876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497384
Supporting Variants
Samples
Known GenesFBXW8, LOC100506551
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684723
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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