A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697444



Internal ID21723765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63977725..63977725hg38UCSC Ensembl
chr20:62609078..62609078hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229394, nssv17203273
Samples
Known GenesSAMD10
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)nsv5697444
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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