A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207754



Internal ID22356096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:89445787..89468084hg38UCSC Ensembl
Outerchr3:89494937..89517234hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3822298
hg1922298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271032, nssv14271034, nssv14271033
SamplesNA19238, HG00732, HG00733
Known GenesEPHA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207754
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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