A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706728



Internal ID21733049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43803869..43803869hg38UCSC Ensembl
chr11:43825419..43825419hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231596, nssv17191165
Samples
Known GenesHSD17B12
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)nsv5706728
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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