A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193507



Internal ID22343945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212909537..212919441hg38UCSC Ensembl
Outerchr1:213082879..213092783hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg389905
hg199905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278403, nssv14278404, nssv14278402, nssv14278407, nssv14278405, nssv14278400, nssv14278401, nssv14278406
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193507
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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