A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721003



Internal ID21747324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:89755787..89755787hg38UCSC Ensembl
chrX:89010786..89010786hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205387, nssv17225305
Samples
Known Genes
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)nsv5721003
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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