A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218194



Internal ID22363617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:96824384..96919001hg38UCSC Ensembl
Outerchr7:96453696..96548313hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3894618
hg1994618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277578, nssv14277584, nssv14277579, nssv14277581, nssv14277577, nssv14277580, nssv14277582, nssv14277585, nssv14277583
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218194
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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