A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18048388



Internal ID20615428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48425494..48432162hg38UCSC Ensembl
chr19:48928751..48935419hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386669
hg196669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521274
Supporting Variants
Samples
Known GenesGRIN2D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18048388
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