A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711017



Internal ID21737338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74321813..74321813hg38UCSC Ensembl
chr18:71989048..71989048hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199724
Samples
Known GenesC18orf63
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)nsv5711017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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