A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689388



Internal ID113054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79323682..79325800hg38UCSC Ensembl
chr12:79717462..79719580hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382119
hg192119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503775
Supporting Variants
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689388
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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