A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716115



Internal ID21742436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110282496..110282496hg38UCSC Ensembl
chrX:109525724..109525724hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241346, nssv17249239
Samples
Known GenesAMMECR1
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)nsv5716115
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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