A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229972



Internal ID22371645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158721793..158765888hg38UCSC Ensembl
Outerchr1:158691583..158735678hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264073, nssv14264074
SamplesNA19238, NA19240
Known GenesOR6K6, OR6N1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229972
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