A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238268



Internal ID22374109
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268265, nssv14268270, nssv14268268, nssv14268266, nssv14268272, nssv14268269, nssv14268267, nssv14268271, nssv14268273
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAM19A5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238268
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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