A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268521



Internal ID22267280
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236298
Supporting Variants
SamplesNA19238
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268521
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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