A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248123



Internal ID22376893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50466615..50507643hg38UCSC Ensembl
Outerchr22:50905044..50946072hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267820, nssv14267821, nssv14267822, nssv14267818, nssv14267819
SamplesNA19238, HG00731, NA19240, HG00733, HG00514
Known GenesADM2, LMF2, MIOX, SBF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248123
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer