A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684053



Internal ID107719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89733545..89733675hg38UCSC Ensembl
chr12:90127322..90127452hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500713
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684053
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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