A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690698



Internal ID114364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112959281..112961212hg38UCSC Ensembl
chr12:113397086..113399017hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381932
hg191932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503560
Supporting Variants
Samples
Known GenesOAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690698
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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