A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728078



Internal ID21754399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15401372..15401372hg38UCSC Ensembl
chrX:15419494..15419494hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202258, nssv17232863
Samples
Known GenesPIR, PIR-FIGF
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)nsv5728078
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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