A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729730



Internal ID21756051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:39286014..39286014hg38UCSC Ensembl
chrX:39145268..39145268hg19UCSC Ensembl
CytobandXp11.4
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 Variantsnssv17231333, nssv17205246
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)nsv5729730
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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