A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18047533



Internal ID20614573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3037594..3041095hg38UCSC Ensembl
chr19:3037592..3041093hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383502
hg193502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6515593
Supporting Variants
Samples
Known GenesTLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18047533
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00046


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