A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193484



Internal ID22343926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:194477081..194498144hg38UCSC Ensembl
Outerchr1:194446211..194467274hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3821064
hg1921064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255637, nssv14255636, nssv14255635, nssv14255634, nssv14255638, nssv14255639
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193484
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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