A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847825



Internal ID22031468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70643060..70643060hg38UCSC Ensembl
chr14:71109777..71109777hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241497
Supporting Variants
Samples
Known GenesTTC9
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847825
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