A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719732



Internal ID21746053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:112656078..112656078hg38UCSC Ensembl
chrX:111899306..111899306hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205616, nssv17232722
Samples
Known GenesLHFPL1
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)nsv5719732
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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