A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717276



Internal ID21743597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154839751..154839751hg38UCSC Ensembl
chrX:154068026..154068026hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203552
Samples
Known GenesF8
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)nsv5717276
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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