A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234883



Internal ID22373144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:19915256..19930193hg38UCSC Ensembl
Outerchr20:19895900..19910837hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382382
hg192382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265866, nssv14265862, nssv14265869, nssv14265865, nssv14265868, nssv14265867, nssv14265863, nssv14265864, nssv14265861
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRIN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234883
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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