A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696859



Internal ID21723180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109337081..109337081hg38UCSC Ensembl
chr8:110349310..110349310hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184549, nssv17229520
Samples
Known GenesENY2
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)nsv5696859
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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