A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253140



Internal ID22130356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:131355984..131383119hg38UCSC Ensembl
Outerchr9:134231371..134258506hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg382106
hg192106
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235569
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253140
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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