A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399027



Internal ID178421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75085790..75085841hg38UCSC Ensembl
chr2:75312917..75312968hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916151
Samples
Known GenesTACR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399027
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