A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698006



Internal ID21724327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5213026..5213026hg38UCSC Ensembl
chr17:5116321..5116321hg19UCSC Ensembl
Cytoband17p13.2
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 Variantsnssv17198903, nssv17218370
Samples
Known GenesLOC100130950, SCIMP
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)nsv5698006
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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