A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247228



Internal ID22376653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48694454..48760482hg38UCSC Ensembl
Outerchr22:49090266..49156294hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270022, nssv14270023, nssv14270021
SamplesNA19239, NA19240, HG00733
Known GenesFAM19A5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247228
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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