A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424268



Internal ID203263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45988472..45988523hg38UCSC Ensembl
chr12:46382255..46382306hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058157
Samples
Known GenesSCAF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424268
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