A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721710



Internal ID21748031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11610274..11610274hg38UCSC Ensembl
chrX:11628394..11628394hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249098, nssv17239404
Samples
Known GenesARHGAP6
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)nsv5721710
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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