A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718372



Internal ID21744693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16016603..16016603hg38UCSC Ensembl
chrX:16034726..16034726hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202266
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)nsv5718372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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