A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246047



Internal ID22050657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179959860..179959860hg38UCSC Ensembl
chr1:179928995..179928995hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839496
Samples
Known GenesCEP350
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246047
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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