A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17838805



Internal ID22022448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144827758..144827758hg38UCSC Ensembl
chr7:144524851..144524851hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6239868
Supporting Variants
Samples
Known GenesTPK1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17838805
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