A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687139



Internal ID21713460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90702017..90702017hg38UCSC Ensembl
chr5:89997834..89997834hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177863, nssv17213218
Samples
Known GenesGPR98
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)nsv5687139
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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