A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715482



Internal ID21741803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:151311829..151311829hg38UCSC Ensembl
chrX:150480301..150480301hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383026
hg193026
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244521, nssv17238113
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)nsv5715482
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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