A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269138



Internal ID22122048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46999805..47012779hg38UCSC Ensembl
Outerchr22:47395701..47408675hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241023
Supporting Variants
SamplesHG00512
Known GenesTBC1D22A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269138
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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