A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214197



Internal ID22360919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203504638..203507795hg38UCSC Ensembl
Outerchr1:203473766..203476923hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268364
SamplesNA19239
Known GenesOPTC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214197
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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