A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222435



Internal ID22366511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:240110054..240188971hg38UCSC Ensembl
Outerchr1:240273354..240352271hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384382
hg194382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268953, nssv14268955, nssv14268956, nssv14268954
SamplesHG00512, NA19239, HG00513, HG00514
Known GenesFMN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222435
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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