A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701765



Internal ID21728086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1167338..1167338hg38UCSC Ensembl
chr20:1147982..1147982hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203104, nssv17217100
Samples
Known GenesPSMF1
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)nsv5701765
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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