A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696083



Internal ID21722404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97043461..97043461hg38UCSC Ensembl
chr8:98055689..98055689hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217682, nssv17184849
Samples
Known GenesCPQ
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)nsv5696083
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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