A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690375



Internal ID21716696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84846573..84846573hg38UCSC Ensembl
chr6:85556291..85556291hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231872, nssv17180384
Samples
Known Genes
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)nsv5690375
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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