A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216226



Internal ID22362289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133104397..133148313hg38UCSC Ensembl
Outerchr10:134917901..134961817hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3843917
hg1943917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1162n152
Supporting Variantsnssv14280063, nssv14280065, nssv14280064
SamplesHG00512, HG00733, HG00514
Known GenesGPR123
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216226
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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