A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201498



Internal ID22350799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220815305..220819368hg38UCSC Ensembl
Outerchr1:220988647..220992710hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384064
hg194064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259061
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201498
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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