A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv563n223



Internal ID22803531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237016219..237367598hg38UCSC Ensembl
chr1:237179519..237530898hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38351380
hg19351380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6326211, nsv6320670
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv563n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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