A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845122



Internal ID22028765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234669982..234669982hg38UCSC Ensembl
chr1:234805728..234805728hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258619
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845122
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