A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233539



Internal ID22372785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39992523..40008606hg38UCSC Ensembl
Outerchr22:40388527..40404610hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268170, nssv14268171, nssv14268172, nssv14268168, nssv14268169
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known GenesFAM83F
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233539
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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