A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17204009



Internal ID21651518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17939853..17939853hg38UCSC Ensembl
chr21:19312170..19312170hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708231
Supporting Variants
Samples
Known GenesCHODL
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)nssv17204009
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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