A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6260550



Internal ID22065160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17972820..17972820hg38UCSC Ensembl
chr6:17973051..17973051hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17859281
Samples
Known GenesKIF13A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6260550
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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