A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6052646



Internal ID21961879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237307928..237307928hg38UCSC Ensembl
chr1:237471228..237471228hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17535831
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6052646
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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