A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692861



Internal ID21719182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157276793..157276793hg38UCSC Ensembl
chr2:158133305..158133305hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228266, nssv17209293
Samples
Known GenesGALNT5
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)nsv5692861
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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