A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240041



Internal ID22374591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50002617..50069434hg38UCSC Ensembl
Outerchr22:50441046..50507863hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381968
hg191968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267806, nssv14267807, nssv14267809, nssv14267808
SamplesNA19238, NA19239, HG00731, HG00732
Known GenesIL17REL, MLC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240041
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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