A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428778



Internal ID207636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102902392..102902442hg38UCSC Ensembl
chr12:103296170..103296220hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690438
Samples
Known GenesPAH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428778
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