A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268208



Internal ID22135756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43400336..43438054hg38UCSC Ensembl
Outerchr22:43796342..43833973hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241506
Supporting Variants
SamplesHG00513
Known GenesMPPED1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268208
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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