A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040971



Internal ID21950309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179353211..179353211hg38UCSC Ensembl
chr1:179322346..179322346hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527408
Samples
Known GenesSOAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040971
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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