A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717022



Internal ID21743343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130683988..130683988hg38UCSC Ensembl
chrX:129817962..129817962hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248664, nssv17253041
Samples
Known GenesENOX2
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)nsv5717022
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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