A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214034



Internal ID22360800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:11287521..11294751hg38UCSC Ensembl
chrUn_gl000234:27434..34661hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg387231
hg197228
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303293, nssv14303288, nssv14303290, nssv14303294, nssv14303286, nssv14303292, nssv14303287, nssv14303289, nssv14303291
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)nsv3214034
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