A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722998



Internal ID21749319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:25286787..25286787hg38UCSC Ensembl
chrX:25304904..25304904hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214530, nssv17203863
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)nsv5722998
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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