A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233291



Internal ID21680800
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 StatusS
Merged Variantsnsv5713730
Supporting Variants
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)nssv17233291
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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