A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202869



Internal ID22351970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:144856142..144903364hg38UCSC Ensembl
Outerchr2:145613709..145660931hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3847223
hg1947223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264298
SamplesNA19238
Known GenesTEX41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202869
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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