A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689394



Internal ID21715715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36003130..36003130hg38UCSC Ensembl
chr6:35970907..35970907hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230244, nssv17178816
Samples
Known GenesSLC26A8
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)nsv5689394
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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