A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203986



Internal ID22352909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198331353..198350046hg38UCSC Ensembl
Outerchr1:198300483..198319176hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3818694
hg1918694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275328, nssv14275814, nssv14275815
SamplesNA19238, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203986
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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