A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6520258



Internal ID20893619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38436198..38456472hg38UCSC Ensembl
chr19:38926838..38947112hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3820275
hg1920275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18047592
Samples
Known GenesRYR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6520258
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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