A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053079



Internal ID103233
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 StatusS
Merged Variantsnsv5494258
Supporting Variants
Samples
Known GenesPRH1-PRR4, PRH2, TAS2R14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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