A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268267



Internal ID22146523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48595506..48642474hg38UCSC Ensembl
Outerchr22:48991318..49038286hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg382196
hg192196
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238268
Supporting Variants
SamplesHG00514
Known GenesFAM19A5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268267
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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