A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707396



Internal ID21733717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4986380..4986380hg38UCSC Ensembl
chr17:4889675..4889675hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216393, nssv17198900
Samples
Known GenesCAMTA2
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)nsv5707396
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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