A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231546



Internal ID22372257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19136863..19167536hg38UCSC Ensembl
Outerchr22:19124376..19155049hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381427
hg191427
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269152
SamplesHG00513
Known GenesDGCR14, GSC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231546
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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