A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269188



Internal ID22184448
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231826
Supporting Variants
SamplesHG00731
Known GenesCYP2D6, CYP2D7P, NDUFA6-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269188
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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