A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5859874



Internal ID22634809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111575085..111582709hg38UCSC Ensembl
chr12:112012889..112020513hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg387625
hg197625
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17454498
Samples
Known GenesATXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5859874
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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