A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289620



Internal ID22253328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236328274..236335953hg38UCSC Ensembl
Outerchr1:236491574..236499253hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg387680
hg197680
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196335
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289620
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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