A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202961



Internal ID21650470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43560933..43560933hg38UCSC Ensembl
chr20:42189573..42189573hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696548
Supporting Variants
Samples
Known GenesSGK2
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)nssv17202961
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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