A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202087



Internal ID22351294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:159665504..159683692hg38UCSC Ensembl
Outerchr1:159635294..159653482hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3818189
hg1918189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254209, nssv14254208
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202087
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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