A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854473



Internal ID22038116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69176495..69176495hg38UCSC Ensembl
chr1:69642178..69642178hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6254665
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854473
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