A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217886



Internal ID22363410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18579479..18603746hg38UCSC Ensembl
Outerchr8:18436989..18461256hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3824268
hg1924268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280899, nssv14280897, nssv14280900, nssv14280901, nssv14280894, nssv14280898, nssv14280902, nssv14280896, nssv14280895
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPSD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217886
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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