A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714844



Internal ID21741165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81222557..81222557hg38UCSC Ensembl
chrX:80478056..80478056hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217622, nssv17205534
Samples
Known GenesSH3BGRL
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)nsv5714844
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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