A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6085474



Internal ID21994707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49639120..49639120hg38UCSC Ensembl
chr12:50032903..50032903hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17608023
Samples
Known GenesFMNL3, PRPF40B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6085474
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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