A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521553



Internal ID22390969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69094123..69094447hg38UCSC Ensembl
chr4:69959841..69960165hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6674n152
Supporting Variantsnssv14313446, nssv14313445, nssv14313451, nssv14313449, nssv14313448, nssv14313447, nssv14313444, nssv14313450, nssv14313452
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3521553
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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