A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689684



Internal ID21716005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138969884..138969884hg38UCSC Ensembl
chr6:139291021..139291021hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221763, nssv17179767
Samples
Known GenesREPS1
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)nsv5689684
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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