A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283647



Internal ID22188368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:118629287..118639540hg38UCSC Ensembl
Outerchr9:121391565..121401818hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg384383
hg194383
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247562
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283647
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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