A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494258



Internal ID271409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10925220..10950133hg38UCSC Ensembl
chr12:11077819..11102732hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3824914
hg1924914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053079
Samples
Known GenesPRH1-PRR4, PRH2, TAS2R14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494258
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer