A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511203



Internal ID287796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10984400..10989248hg38UCSC Ensembl
chr12:11136999..11141847hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384849
hg194849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053083
Samples
Known GenesPRH1-PRR4, TAS2R50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511203
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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