A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240635



Internal ID22374752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19427795..19466950hg38UCSC Ensembl
Outerchr22:19415318..19454473hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382272
hg192272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268498, nssv14268500, nssv14268499
SamplesHG00512, NA19238, HG00514
Known GenesC22orf39, HIRA, MRPL40, UFD1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240635
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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