A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684678



Internal ID108344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116251435..116254782hg38UCSC Ensembl
chr12:116689240..116692587hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501396
Supporting Variants
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684678
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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