A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220016



Internal ID22364850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:454071..495465hg38UCSC Ensembl
Outerchr7:493948..535102hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382676
hg192676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279576, nssv14279577, nssv14279575
SamplesHG00512, NA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220016
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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