A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282252



Internal ID22199788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:1798404..1809333hg38UCSC Ensembl
Outerchr9:1798404..1809333hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235324
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282252
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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