A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241408



Internal ID22046018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243175059..243175059hg38UCSC Ensembl
chr1:243338361..243338361hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844842
Samples
Known GenesCEP170
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241408
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer