A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211229



Internal ID22358853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65363265..65363319hg38UCSC Ensembl
chr14:65829983..65830037hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2647n152
Supporting Variantsnssv14370375, nssv14370372, nssv14370374, nssv14370373, nssv14370371
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211229
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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