A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268213



Internal ID22135760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43906539..43930326hg38UCSC Ensembl
Outerchr22:44302419..44326206hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237658
Supporting Variants
SamplesHG00513
Known GenesPNPLA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268213
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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