A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205783



Internal ID22354423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13182202..13365670hg38UCSC Ensembl
Outerchr1:13319913..13692128hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38183469
hg19372216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253864, nssv14253865, nssv14253867, nssv14253866
SamplesNA19238, HG00731, HG00732, HG00513
Known GenesPRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PRAMEF22, PRAMEF23, PRAMEF3, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205783
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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