A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729204



Internal ID21755525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15157663..15157663hg38UCSC Ensembl
chrX:15175785..15175785hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381846
hg191846
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225258, nssv17240353
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)nsv5729204
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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