A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701652



Internal ID21727973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27512799..27512799hg38UCSC Ensembl
chr8:27370316..27370316hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184302, nssv17224892
Samples
Known GenesEPHX2
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)nsv5701652
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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