A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5731055



Internal ID21757376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:105796624..105796624hg38UCSC Ensembl
chrX:105040617..105040617hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg385573
hg195573
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234834
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)nsv5731055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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