A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230323



Internal ID21677832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49295410..49295410hg38UCSC Ensembl
chr17:47372772..47372772hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5695468
Supporting Variants
Samples
Known GenesZNF652
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)nssv17230323
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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