A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686347



Internal ID21712668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17508730..17508730hg38UCSC Ensembl
chr4:17510353..17510353hg19UCSC Ensembl
Cytoband4p15.32
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 Variantsnssv17225579
Samples
Known GenesQDPR
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)nsv5686347
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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