A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727089



Internal ID21753410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:43771642..43771642hg38UCSC Ensembl
chrX:43630889..43630889hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222005, nssv17236686
Samples
Known GenesMAOB
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5727089
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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