A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250276



Internal ID22377491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124313458..124329035hg38UCSC Ensembl
Outerchr12:124798004..124813581hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256065
SamplesHG00513
Known GenesFAM101A, NCOR2, ZNF664-FAM101A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250276
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