A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705071



Internal ID21731392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75620751..75620751hg38UCSC Ensembl
chr18:73332706..73332706hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199741
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5705071
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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