A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709307



Internal ID21735628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27122316..27122316hg38UCSC Ensembl
chr13:27696453..27696453hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194394, nssv17217161
Samples
Known GenesUSP12
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)nsv5709307
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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