A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520532



Internal ID22389940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:10451446..10451766hg38UCSC Ensembl
chr10:10493409..10493729hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv797n152
Supporting Variantsnssv14330389, nssv14330390, nssv14330386, nssv14330387, nssv14330388, nssv14330392, nssv14330391
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
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)nsv3520532
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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