A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244055



Internal ID22048665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47874975..47874975hg38UCSC Ensembl
chr4:47876992..47876992hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17856751
Samples
Known GenesNFXL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244055
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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