A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226954



Internal ID22369588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158305986..158320652hg38UCSC Ensembl
Outerchr1:158275776..158290442hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382216
hg192216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264858, nssv14264857
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226954
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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