A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228635



Internal ID22366874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236394691..236398748hg38UCSC Ensembl
Outerchr1:236557991..236562048hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382136
hg192136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272549
SamplesHG00512
Known GenesEDARADD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228635
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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