A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708544



Internal ID21734865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109154..109154hg38UCSC Ensembl
chr12:218320..218320hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190734
Samples
Known GenesIQSEC3
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)nsv5708544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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