A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6095275



Internal ID22004508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86396941..86396941hg38UCSC Ensembl
chr12:86790719..86790719hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17610284
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6095275
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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