A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199358



Internal ID22348953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:183392183..183509782hg38UCSC Ensembl
Outerchr2:184256911..184374510hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38117600
hg19117600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264408
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199358
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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