A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241898



Internal ID22046508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7944628..7944628hg38UCSC Ensembl
chr2:8084759..8084759hg19UCSC Ensembl
Cytoband2p25.1
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 Variantsnssv17847920
Samples
Known GenesLINC00298
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241898
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