A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563282



Internal ID336219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13594187..13594238hg38UCSC Ensembl
chr4:13595811..13595862hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948195
Samples
Known GenesBOD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563282
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