A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724765



Internal ID21751086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46555107..46555107hg38UCSC Ensembl
chrX:46414542..46414542hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381504
hg191504
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218748
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)nsv5724765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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