A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202578



Internal ID21650087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44887778..44887778hg38UCSC Ensembl
chr20:43516419..43516419hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708796
Supporting Variants
Samples
Known GenesYWHAB
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)nssv17202578
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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