A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18048392



Internal ID20615432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4848007..4949149hg38UCSC Ensembl
chr19:4848019..4949161hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38101143
hg19101143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6525209
Supporting Variants
Samples
Known GenesARRDC5, MIR4747, PLIN3, UHRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18048392
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