A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697980



Internal ID21724301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20046038..20046038hg38UCSC Ensembl
chr20:20026682..20026682hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203182, nssv17232600
Samples
Known GenesCRNKL1
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)nsv5697980
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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