A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225843



Internal ID22368852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238295674..238297300hg38UCSC Ensembl
Outerchr2:239204315..239205941hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382903
hg192903
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265216
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225843
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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