A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248897



Internal ID22377126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49907879..49955634hg38UCSC Ensembl
Outerchr22:50301527..50349282hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382256
hg192256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267805, nssv14267804, nssv14267803
SamplesNA19238, NA19239, NA19240
Known GenesALG12, CRELD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248897
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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