A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272431



Internal ID22233403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126359309..126389493hg38UCSC Ensembl
Outerchr3:126078152..126108336hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381820
hg191820
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217307
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272431
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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