A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219073



Internal ID20786113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134095358..134344458hg38UCSC Ensembl
chr7:133780111..134029210hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38249101
hg19249100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426147
Supporting Variants
Samples
Known GenesLRGUK, SLC35B4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219073
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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