A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237028



Internal ID22373767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:89244916..89261928hg38UCSC Ensembl
Outerchr9:91859831..91876843hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg381105
hg191105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283555, nssv14283556, nssv14283560, nssv14283554, nssv14283561, nssv14283558, nssv14283557, nssv14283559
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237028
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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