A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518166



Internal ID294562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15388592..15395984hg38UCSC Ensembl
chr19:15499403..15506795hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg387393
hg197393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721764
Samples
Known GenesAKAP8L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518166
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