A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708593



Internal ID21734914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25620105..25620105hg38UCSC Ensembl
chr20:25600741..25600741hg19UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202483, nssv17215887
Samples
Known GenesNANP
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)nsv5708593
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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