A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231689



Internal ID20798729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144627119..144627724hg38UCSC Ensembl
chr7:144324212..144324817hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6431922
Supporting Variants
Samples
Known GenesTPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231689
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00016


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer