A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716764



Internal ID21743085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101960814..101960814hg38UCSC Ensembl
chrX:101215787..101215787hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203451
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)nsv5716764
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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