A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726707



Internal ID21753028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119678634..119678634hg38UCSC Ensembl
chrX:118812597..118812597hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205446
Samples
Known GenesSEPT6
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)nsv5726707
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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