A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229320



Internal ID22371206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142756880..142762692hg38UCSC Ensembl
Outerchr8:143838298..143844110hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385813
hg195813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281537, nssv14281536
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229320
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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