A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518639



Internal ID295019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2465109..2471576hg38UCSC Ensembl
chr19:2465107..2471574hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386468
hg196468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720397
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518639
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