A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226787



Internal ID22369473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1490567..1570348hg38UCSC Ensembl
Outerchr2:1494339..1574120hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381989
hg191989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264935, nssv14264937, nssv14264936, nssv14264934
SamplesNA19238, HG00731, HG00732, HG00733
Known GenesTPO
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226787
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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