A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219548



Internal ID22364540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128916016..128947173hg38UCSC Ensembl
Outerchr9:131678295..131709452hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3831158
hg1931158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9761n152
Supporting Variantsnssv14281836, nssv14281832, nssv14281837, nssv14281835, nssv14281833, nssv14281834
SamplesHG00512, NA19238, HG00731, HG00732, HG00513, HG00514
Known GenesDOLK, LRRC8A, PHYHD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219548
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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