A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703231



Internal ID21729552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40394199..40394199hg38UCSC Ensembl
chr17:38550451..38550451hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218432, nssv17198350
Samples
Known GenesTOP2A
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)nsv5703231
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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