A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223600



Internal ID22367318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:67106768..67113323hg38UCSC Ensembl
Outerchr15:67399106..67405661hg19UCSC Ensembl
Cytoband15q22.33
Allele length
AssemblyAllele length
hg386556
hg196556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257922, nssv14257923, nssv14257920, nssv14257921
SamplesHG00512, NA19239, NA19240, HG00514
Known GenesSMAD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223600
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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