A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271034



Internal ID22267581
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207754
Supporting Variants
SamplesNA19238
Known GenesEPHA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271034
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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