A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714305



Internal ID21740626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:60191145..60191145hg38UCSC Ensembl
chr18:57858378..57858378hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228323, nssv17199672
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)nsv5714305
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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