A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6046169



Internal ID21955414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241614778..241614778hg38UCSC Ensembl
chr1:241778080..241778080hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534498
Samples
Known GenesOPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6046169
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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