A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209015



Internal ID22357157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241522582..241533595hg38UCSC Ensembl
chr2:242461997..242473010hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3811014
hg1911014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298844, nssv14298840, nssv14298839, nssv14298845, nssv14298841, nssv14298843, nssv14298842, nssv14298847, nssv14298846
SamplesHG00512, NA19238, 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)nsv3209015
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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