A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722442



Internal ID21748763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155900594..155900594hg38UCSC Ensembl
chrX:155130258..155130258hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381689
hg191689
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246289, nssv17235783
Samples
Known GenesVAMP7
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)nsv5722442
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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