A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692789



Internal ID21719110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154373141..154373141hg38UCSC Ensembl
chr5:153752701..153752701hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177140
Samples
Known GenesGALNT10
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)nsv5692789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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