A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570558



Internal ID21518926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237536584..237536754hg38UCSC Ensembl
chr1:237699884..237700054hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063343
SamplesHG00513
Known GenesRYR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570558
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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