A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052884



Internal ID103106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10157318..10165122hg38UCSC Ensembl
chr12:10309917..10317721hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg387805
hg197805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505736
Supporting Variants
Samples
Known GenesOLR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052884
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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