A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730395



Internal ID21756716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:116012534..116012534hg38UCSC Ensembl
chrX:115128867..115128867hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225607, nssv17205413
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)nsv5730395
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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