A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691982



Internal ID21718303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93624877..93624877hg38UCSC Ensembl
chr5:92960583..92960583hg19UCSC Ensembl
Cytoband5q15
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 Variantsnssv17176359
Samples
Known GenesFAM172A
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)nsv5691982
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer