A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848416



Internal ID22032059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20694475..20694475hg38UCSC Ensembl
chr2:20894235..20894235hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242234
Supporting Variants
Samples
Known GenesC2orf43
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848416
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