A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199093



Internal ID22348726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120191935..120319363hg38UCSC Ensembl
chr1:144677190..145081000hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38127429
hg19403811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291155, nssv14291149, nssv14291153, nssv14291154, nssv14291152, nssv14291147, nssv14291151, nssv14291150, nssv14291148
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC100288142, LOC653513, NBPF8, NBPF9, PDE4DIP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199093
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