A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725240



Internal ID21751561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152176551..152176551hg38UCSC Ensembl
chrX:151345023..151345023hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240458
Samples
Known GenesGABRA3
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)nsv5725240
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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