A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402778



Internal ID182144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13766803..13766854hg38UCSC Ensembl
chr1:14093298..14093349hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895314
Samples
Known GenesPRDM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402778
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