A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283609



Internal ID22263287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:102303786..102316871hg38UCSC Ensembl
Outerchr9:105066068..105079153hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg383240
hg193240
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233060
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283609
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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