A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712154



Internal ID21738475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:155786284..155786284hg38UCSC Ensembl
chr7:155578978..155578978hg19UCSC Ensembl
Cytoband7q36.3
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 Variantsnssv17229802, nssv17183251
Samples
Known Genes
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)nsv5712154
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