A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203390



Internal ID22352409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:102797086..102854770hg38UCSC Ensembl
Outerchr1:103262642..103320326hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3857685
hg1957685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255959, nssv14255958
SamplesHG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203390
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