A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269171



Internal ID22146646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20335627..20360358hg38UCSC Ensembl
Outerchr22:20323150..20714648hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241194
Supporting Variants
SamplesHG00514
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269171
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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