A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9761n152



Internal ID22825464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128916016..128947173hg38UCSC Ensembl
chr9:131678295..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 Variants
Supporting Variantsnsv3226698, nsv3219548
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)dgv9761n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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