A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204874



Internal ID22353657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13873601..13897722hg38UCSC Ensembl
Outerchr6:13873832..13897953hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3824122
hg1924122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276747, nssv14276746, nssv14276749, nssv14276748
SamplesHG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204874
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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