A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211002



Internal ID22358704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:106770795..106776777hg38UCSC Ensembl
Outerchr7:106411241..106417223hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277982, nssv14277984, nssv14277981, nssv14277983
SamplesNA19238, NA19239, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211002
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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