A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270353



Internal ID22257913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10112148..10192308hg38UCSC Ensembl
Outerchr3:10153832..10233992hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3880161
hg1980161
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196013
Supporting Variants
SamplesNA19238
Known GenesBRK1, IRAK2, VHL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270353
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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