A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289637



Internal ID22158857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:129381623..129428146hg38UCSC Ensembl
Outerchr9:132143902..132190425hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382582
hg192582
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245724
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289637
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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