A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679616



Internal ID21705937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125803598..125803598hg38UCSC Ensembl
chr6:126124744..126124744hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227995, nssv17181847
Samples
Known GenesNCOA7
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)nsv5679616
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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