A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282000



Internal ID22270920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236366925..236398748hg38UCSC Ensembl
Outerchr1:236530225..236562048hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3831824
hg1931824
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196438
Supporting Variants
SamplesNA19239
Known GenesEDARADD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282000
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