A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236298



Internal ID22373542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20331920..20352195hg38UCSC Ensembl
Outerchr22:20319443..20706485hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384829
hg194829
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268519, nssv14268520, nssv14268521
SamplesHG00512, NA19238, HG00733
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236298
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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