A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713650



Internal ID21739971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74874112..74874112hg38UCSC Ensembl
chr17:72870241..72870241hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200733, nssv17217337
Samples
Known Genes
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)nsv5713650
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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