A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512198



Internal ID288763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10995643..11052917hg38UCSC Ensembl
chr12:11148242..11205516hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3857275
hg1957275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053085
Samples
Known GenesPRH1-PRR4, TAS2R19, TAS2R20, TAS2R31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512198
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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