A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270238



Internal ID22122394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129350183..129374511hg38UCSC Ensembl
Outerchr3:129069026..129093354hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3824329
hg1924329
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205299
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270238
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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