A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213877



Internal ID22360685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2276806..2338777hg38UCSC Ensembl
Outerchr1:2208245..2270216hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267490, nssv14275870, nssv14267489
SamplesNA19239, NA19240, HG00733
Known GenesMORN1, SKI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213877
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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