A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202450



Internal ID22351614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:59642008..59729495hg38UCSC Ensembl
Outerchr2:59869143..59956630hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3887488
hg1987488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264673
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202450
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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