A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942092



Internal ID22717524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15388673..15388971hg38UCSC Ensembl
chr19:15499484..15499782hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401334
Samples
Known GenesAKAP8L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942092
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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