A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559692



Internal ID22428492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61377742..61377742hg38UCSC Ensembl
chr11:61145214..61145214hg19UCSC Ensembl
Cytoband11q12.2
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 Variantsnssv14359704, nssv14359703, nssv14359701, nssv14359700, nssv14359698, nssv14359697, nssv14359699, nssv14359702
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559692
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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