A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200096



Internal ID22349595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:192508563..192549879hg38UCSC Ensembl
Outerchr2:193373289..193414605hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3841317
hg1941317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263823, nssv14263822
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200096
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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