A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253106



Internal ID22129836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:34668299..34685103hg38UCSC Ensembl
Outerchr9:34668296..34685100hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249486
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253106
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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