A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18047755



Internal ID20614795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40462259..40465021hg38UCSC Ensembl
chr19:40968166..40970928hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382763
hg192763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526067
Supporting Variants
Samples
Known GenesBLVRB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18047755
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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