A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726922



Internal ID21753243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:10683800..10683800hg38UCSC Ensembl
chrX:10651840..10651840hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226028
Samples
Known GenesMID1
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)nsv5726922
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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