A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268165



Internal ID22259413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38180534..38197871hg38UCSC Ensembl
Outerchr22:38576541..38593878hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381159
hg191159
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240351
Supporting Variants
SamplesNA19238
Known GenesPLA2G6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268165
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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