A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215439



Internal ID22361777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:107770232..107778739hg38UCSC Ensembl
Outerchr9:110532513..110541020hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg388508
hg198508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281285, nssv14281287, nssv14281279, nssv14281286, nssv14281284, nssv14281283, nssv14281282, nssv14281281, nssv14281280
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215439
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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