A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727255



Internal ID21753576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6414097..6414097hg38UCSC Ensembl
chr11:6435327..6435327hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242734, nssv17249305
Samples
Known GenesAPBB1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5727255
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