A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193131



Internal ID22343616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:145383561..145389394hg38UCSC Ensembl
Outerchr6:145704697..145710530hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg385834
hg195834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276645, nssv14276646
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193131
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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