A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703627



Internal ID21729948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128942609..128942609hg38UCSC Ensembl
chr12:129427154..129427154hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194323, nssv17228481
Samples
Known GenesGLT1D1
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)nsv5703627
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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