A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201139



Internal ID22350488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:145532795..145630580hg38UCSC Ensembl
Outerchr2:146290363..146388148hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3897786
hg1997786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264299
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201139
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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