A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198140



Internal ID20765180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40462391..40491488hg38UCSC Ensembl
chr19:40968298..40997395hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3829098
hg1929098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6515798
Supporting Variants
Samples
Known GenesBLVRB, SPTBN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198140
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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