A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220006



Internal ID22364842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126898218..126912731hg38UCSC Ensembl
Outerchr3:126617061..126631574hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272435
SamplesNA19238
Known GenesCHCHD6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220006
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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