A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681358



Internal ID21707679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178715044..178715044hg38UCSC Ensembl
chr5:178142045..178142045hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177178, nssv17216987
Samples
Known GenesZNF354A
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)nsv5681358
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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