A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187160



Internal ID22339583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16149896..16150219hg38UCSC Ensembl
chr21:17522216..17522539hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14300890
SamplesNA19239
Known GenesLINC00478
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187160
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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