A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200032



Internal ID22349541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241566836..241570220hg38UCSC Ensembl
Outerchr2:242506251..242509635hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383385
hg193385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264721
SamplesHG00514
Known GenesBOK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200032
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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