A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426351



Internal ID205287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79749410..79749461hg38UCSC Ensembl
chr12:80143190..80143241hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689420
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426351
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer