A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222001



Internal ID22366211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111163385..111182809hg38UCSC Ensembl
Outerchr6:111484588..111504012hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384516
hg194516
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278933, nssv14278932
SamplesNA19239, NA19240
Known GenesSLC16A10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222001
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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