A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720251



Internal ID21746572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109396465..109396465hg38UCSC Ensembl
chrX:108639694..108639694hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245156
Samples
Known GenesGUCY2F
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)nsv5720251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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