A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283046



Internal ID22256686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:66778497..66794091hg38UCSC Ensembl
Outerchr9:40898783..40914372hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3811427
hg1911427
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240659
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283046
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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