A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720194



Internal ID21746515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:106849244..106849244hg38UCSC Ensembl
chrX:106092474..106092474hg19UCSC Ensembl
CytobandXq22.3
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 Variantsnssv17205566
Samples
Known GenesTBC1D8B
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)nsv5720194
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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