A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403504



Internal ID182864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135079082..135079126hg38UCSC Ensembl
chr7:134763834..134763878hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003665
Samples
Known GenesAGBL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403504
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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