A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724460



Internal ID21750781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:104329259..104329259hg38UCSC Ensembl
chrX:103573940..103573940hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17232029, nssv17203467
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)nsv5724460
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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