A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242630



Internal ID22375332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43988151..44032488hg38UCSC Ensembl
Outerchr20:42616791..42661128hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381890
hg191890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267229, nssv14267227, nssv14267228, nssv14268046, nssv14267225, nssv14268045, nssv14268047, nssv14268044, nssv14267226
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTOX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242630
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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