A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193372



Internal ID22343826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:95980568..96083906hg38UCSC Ensembl
Outerchr1:96446124..96549462hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38103339
hg19103339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256824, nssv14256823
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193372
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer