A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203672



Internal ID21651181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29006350..29006350hg38UCSC Ensembl
chr21:30378671..30378671hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5705805
Supporting Variants
Samples
Known GenesRWDD2B
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)nssv17203672
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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