A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691807



Internal ID21718128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9653770..9653770hg38UCSC Ensembl
chr5:9653882..9653882hg19UCSC Ensembl
Cytoband5p15.31
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 Variantsnssv17213001, nssv17175342
Samples
Known GenesLOC285692
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)nsv5691807
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