A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213818



Internal ID22360641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:127999370..128011380hg38UCSC Ensembl
Outerchr6:128320515..128332525hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg383941
hg193941
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277074, nssv14277071, nssv14277073, nssv14277070, nssv14277072, nssv14277069
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesPTPRK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213818
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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