A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687891



Internal ID21714212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151047081..151047081hg38UCSC Ensembl
chr5:150426642..150426642hg19UCSC Ensembl
Cytoband5q33.1
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 Variantsnssv17217850, nssv17177091
Samples
Known GenesTNIP1
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)nsv5687891
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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