A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689409



Internal ID113075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79562563..79565652hg38UCSC Ensembl
chr12:79956343..79959432hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383090
hg193090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499863
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689409
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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