A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708252



Internal ID21734573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37853519..37853519hg38UCSC Ensembl
chr9:37853516..37853516hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17232089, nssv17187114
Samples
Known GenesDCAF10
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)nsv5708252
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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