A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230626



Internal ID22371979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111769937..111800811hg38UCSC Ensembl
Outerchr9:114532217..114563091hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg384494
hg194494
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283640, nssv14283639
SamplesNA19238, NA19240
Known GenesC9orf84
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230626
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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