A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227369



Internal ID22369889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70694713..70744387hg38UCSC Ensembl
Outerchr9:73309629..73359303hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3849675
hg1949675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281182, nssv14281185, nssv14281181, nssv14281184, nssv14281180, nssv14281183, nssv14281179
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513, HG00514
Known GenesTRPM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227369
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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