A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704685



Internal ID21731006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45418124..45418124hg38UCSC Ensembl
chr20:44046764..44046764hg19UCSC Ensembl
Cytoband20q13.12
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 Variantsnssv17200945
Samples
Known GenesPIGT
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)nsv5704685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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