A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199225



Internal ID22348843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:67538031..67551374hg38UCSC Ensembl
Outerchr1:68003714..68017057hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3813344
hg1913344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254786, nssv14254788, nssv14254787
SamplesHG00512, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199225
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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