A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237750



Internal ID22373962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62281409..62391784hg38UCSC Ensembl
Outerchr20:60856465..60966840hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg385985
hg195985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266924, nssv14266929, nssv14266923, nssv14266927, nssv14266926, nssv14266928, nssv14266925, nssv14266930, nssv14266931
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADRM1, CABLES2, LAMA5, MIR4758, OSBPL2, RPS21
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237750
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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