A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850033



Internal ID22033676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49031249..49031249hg38UCSC Ensembl
chr20:47647786..47647786hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251493
Supporting Variants
Samples
Known GenesARFGEF2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850033
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