A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233191



Internal ID22372688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48957998..48968378hg38UCSC Ensembl
Outerchr8:49870557..49880937hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg385043
hg195043
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279834, nssv14279835
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233191
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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