A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690186



Internal ID113852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98038039..98042517hg38UCSC Ensembl
chr12:98431817..98436295hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384479
hg194479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506229
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690186
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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