A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690789



Internal ID114455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123289232..123289453hg38UCSC Ensembl
chr12:123773779..123774000hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506954
Supporting Variants
Samples
Known GenesSBNO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690789
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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