A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715814



Internal ID21742135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81362344..81362344hg38UCSC Ensembl
chrX:80617843..80617843hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220206
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)nsv5715814
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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