A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258569



Internal ID22063179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4849489..4849489hg38UCSC Ensembl
chr12:4958655..4958655hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843162
Samples
Known GenesKCNA6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258569
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