A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253138



Internal ID22130286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:118629287..118652059hg38UCSC Ensembl
Outerchr9:121391565..121414337hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg382584
hg192584
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245787
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253138
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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