A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705801



Internal ID21732122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37019971..37019971hg38UCSC Ensembl
chr13:37594108..37594108hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220673, nssv17193479
Samples
Known GenesSUPT20H
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)nsv5705801
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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