A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225410



Internal ID22368547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3226785..3305567hg38UCSC Ensembl
Outerchr11:3248015..3326797hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3878783
hg1978783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1244n152
Supporting Variantsnssv14253261, nssv14253260, nssv14253263, nssv14253262, nssv14253258, nssv14253259, nssv14253257
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesMRGPRE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225410
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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