A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691424



Internal ID21717745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68327971..68327971hg38UCSC Ensembl
chr4:69193689..69193689hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17173990, nssv17212368
Samples
Known GenesYTHDC1
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)nsv5691424
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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