A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191652



Internal ID22342328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:163834142..163925554hg38UCSC Ensembl
Outerchr2:164690652..164782064hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3891413
hg1991413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264333
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191652
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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