A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535600



Internal ID311213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116389528..116389569hg38UCSC Ensembl
chr12:116827333..116827374hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684686
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535600
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