A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191329



Internal ID22342050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104807255..104832789hg38UCSC Ensembl
Outerchr6:105255130..105280664hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3825535
hg1925535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276722, nssv14276724, nssv14276723
SamplesHG00512, HG00732, HG00733
Known GenesHACE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191329
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