A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713730



Internal ID21740051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:87662004..87662004hg38UCSC Ensembl
chr10:89421761..89421761hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233291, nssv17189641
Samples
Known GenesPAPSS2
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)nsv5713730
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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