A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263823



Internal ID22294722
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200096
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263823
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