A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6043052



Internal ID21952363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171648650..171648650hg38UCSC Ensembl
chr1:171617790..171617790hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526666
Samples
Known GenesMYOC
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6043052
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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