A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523462



Internal ID299695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11819778..11820877hg38UCSC Ensembl
chr16:11913635..11914734hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704611
Samples
Known GenesBCAR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523462
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer