A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212479



Internal ID22359716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1856434..1865776hg38UCSC Ensembl
Outerchr2:1860206..1869548hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381652
hg191652
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264949, nssv14264950, nssv14264943, nssv14264948, nssv14264946, nssv14264945, nssv14264951, nssv14264947, nssv14264944
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMYT1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212479
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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