A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689419



Internal ID113085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79749265..79755642hg38UCSC Ensembl
chr12:80143045..80149422hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg386378
hg196378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495943
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689419
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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