A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719851



Internal ID21746172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31352213..31352213hg38UCSC Ensembl
chrX:31370330..31370330hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202348, nssv17224208
Samples
Known GenesDMD
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)nsv5719851
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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