A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431108



Internal ID209893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108368180..108368231hg38UCSC Ensembl
chr12:108761957..108762008hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684305
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431108
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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