A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727227



Internal ID21753548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16900348..16900348hg38UCSC Ensembl
chrX:16918471..16918471hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17232584, nssv17243281
Samples
Known Genes
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)nsv5727227
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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