A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724870



Internal ID21751191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:74247753..74247753hg38UCSC Ensembl
chrX:73467588..73467588hg19UCSC Ensembl
CytobandXq13.2
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 Variantsnssv17203402
Samples
Known GenesFTX
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)nsv5724870
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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