A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247283



Internal ID22376666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:138223227..138240387hg38UCSC Ensembl
Outerchr9:141113677..141130837hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280800, nssv14280803, nssv14280799, nssv14280804, nssv14280805, nssv14280801, nssv14280806, nssv14280802
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesFAM157B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247283
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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