A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560106



Internal ID22428901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88127094..88127094hg38UCSC Ensembl
chr12:88520871..88520871hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364826, nssv14364828, nssv14364830, nssv14364829, nssv14364831, nssv14364827, nssv14364825
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCEP290
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560106
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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