A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270021



Internal ID22225372
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247228
Supporting Variants
SamplesHG00733
Known GenesFAM19A5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270021
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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