A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209646



Internal ID22357688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112285214..112298895hg38UCSC Ensembl
Outerchr1:112827836..112841517hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3813682
hg1913682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268084, nssv14268082, nssv14268081, nssv14268080, nssv14268077, nssv14268085, nssv14268083, nssv14268079, nssv14268078
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209646
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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