A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213826



Internal ID22360646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:106321795..106342407hg38UCSC Ensembl
Outerchr7:105962241..105982853hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg386270
hg196270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279686, nssv14279684, nssv14279685
SamplesNA19239, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213826
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