A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4739056



Internal ID20515028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237591085..237591168hg38UCSC Ensembl
chr1:237754385..237754468hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269492
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4739056
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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