A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206059



Internal ID22354659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:78403158..78485190hg38UCSC Ensembl
Outerchr1:78868843..78950875hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3882033
hg1982033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259052
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206059
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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