A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193053



Internal ID22343550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65599969..65601110hg38UCSC Ensembl
chr2:65827103..65828244hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381142
hg191142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14290558, nssv14290556, nssv14290561, nssv14290554, nssv14290559, nssv14290560, nssv14290557, nssv14290555
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193053
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