A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514043



Internal ID290547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14122355..14125169hg38UCSC Ensembl
chr19:14233167..14235981hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382815
hg192815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721657
Samples
Known GenesASF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514043
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