A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231826



Internal ID22372348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42118380..42147472hg38UCSC Ensembl
Outerchr22:42514384..42543461hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3814287
hg1914287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269188
SamplesHG00731
Known GenesCYP2D6, CYP2D7P, NDUFA6-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231826
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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