A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18059244



Internal ID20626284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237533901..237535200hg38UCSC Ensembl
chr1:237697201..237698500hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325577
Supporting Variants
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18059244
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00142


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