A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499360



Internal ID276334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10157888..10176569hg38UCSC Ensembl
chr12:10310487..10329168hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3818682
hg1918682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052886
Samples
Known GenesOLR1, TMEM52B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499360
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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