A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17216091



Internal ID21663600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38912031..38912031hg38UCSC Ensembl
chrX:38771284..38771284hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722528
Supporting Variants
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)nssv17216091
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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