A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429691



Internal ID208530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110434998..110434998hg38UCSC Ensembl
chr12:110872803..110872803hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684427
Samples
Known GenesARPC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429691
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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