A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522966



Internal ID22392390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70519114..70519422hg38UCSC Ensembl
chr16:70553017..70553325hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3273n152
Supporting Variantsnssv14387274, nssv14391823, nssv14377087, nssv14379835, nssv14375575, nssv14384336, nssv14389658, nssv14392246
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCOG4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522966
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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