A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200883



Internal ID22350272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216035482..216081403hg38UCSC Ensembl
Outerchr2:216900205..216946126hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3845922
hg1945922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4988n152
Supporting Variantsnssv14264720
SamplesHG00514
Known GenesPECR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200883
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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