A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211265



Internal ID22358878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:240169763..240188971hg38UCSC Ensembl
Outerchr1:240333063..240352271hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381567
hg191567
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265703, nssv14265702, nssv14265701, nssv14265699, nssv14265700
SamplesNA19238, HG00731, HG00732, HG00733, HG00513
Known GenesFMN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211265
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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