A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17840060



Internal ID22023703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119810016..119810016hg38UCSC Ensembl
chr8:120822256..120822256hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246583
Supporting Variants
Samples
Known GenesTAF2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17840060
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