A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847115



Internal ID22030758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36229120..36229120hg38UCSC Ensembl
chr14:36698326..36698326hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258723
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847115
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