A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052886



Internal ID103107
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 StatusS
Merged Variantsnsv5499360
Supporting Variants
Samples
Known GenesOLR1, TMEM52B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052886
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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