A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6260846



Internal ID22065456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72971675..72971675hg38UCSC Ensembl
chr6:73681398..73681398hg19UCSC Ensembl
Cytoband6q13
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 Variantsnssv17857358
Samples
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6260846
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