A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18046529



Internal ID20613569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45797385..45798756hg38UCSC Ensembl
chr19:46300643..46302014hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381372
hg191372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524256
Supporting Variants
Samples
Known GenesRSPH6A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18046529
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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