A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715868



Internal ID21742189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130049312..130049312hg38UCSC Ensembl
chrX:129183287..129183287hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203481
Samples
Known GenesBCORL1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5715868
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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