A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700263



Internal ID21726584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58042701..58042701hg38UCSC Ensembl
chr20:56617757..56617757hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202621, nssv17221804
Samples
Known Genes
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)nsv5700263
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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