A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249936



Internal ID22377406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19447160..19456782hg38UCSC Ensembl
Outerchr22:19434683..19444305hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383948
hg193948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268631, nssv14268632
SamplesHG00512, HG00514
Known GenesC22orf39, UFD1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249936
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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