A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218361



Internal ID22363730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:93212770..93270483hg38UCSC Ensembl
Outerchr8:94224999..94282711hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3857714
hg1957713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281471, nssv14281472
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218361
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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