A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228463



Internal ID22370637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41202261..41221417hg38UCSC Ensembl
Outerchr6:41169999..41189155hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279383, nssv14279381, nssv14279384, nssv14279382
SamplesHG00512, HG00731, HG00732, HG00513
Known GenesTREML3P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228463
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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