A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269158



Internal ID22136046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43486928..43488496hg38UCSC Ensembl
Outerchr22:43882808..43884376hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38938
hg19938
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244452
Supporting Variants
SamplesHG00513
Known GenesMPPED1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269158
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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