A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704547



Internal ID21730868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26081742..26081742hg38UCSC Ensembl
chr18:23661706..23661706hg19UCSC Ensembl
Cytoband18q11.2
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 Variantsnssv17225117, nssv17200091
Samples
Known GenesSS18
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)nsv5704547
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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