A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708956



Internal ID21735277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19501817..19501817hg38UCSC Ensembl
chr12:19654751..19654751hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192402, nssv17230166
Samples
Known GenesAEBP2
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)nsv5708956
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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