A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695584



Internal ID21721905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30476081..30476081hg38UCSC Ensembl
chr11:30497628..30497628hg19UCSC Ensembl
Cytoband11p14.1
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 Variantsnssv17189867, nssv17224684
Samples
Known GenesMPPED2
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)nsv5695584
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