A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846047



Internal ID22029690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54489149..54489149hg38UCSC Ensembl
chr14:54955867..54955867hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258886
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846047
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