A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684728



Internal ID108394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117075955..117075955hg38UCSC Ensembl
chr12:117513760..117513760hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535791
Supporting Variants
Samples
Known GenesTESC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.016534


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