A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6426147



Internal ID21083700
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 StatusM
Merged Variants
Supporting Variantsnssv18219073
Samples
Known GenesLRGUK, SLC35B4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6426147
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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