A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845081



Internal ID22028724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79010188..79010188hg38UCSC Ensembl
chr13:79584323..79584323hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6249350
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845081
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