A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218189



Internal ID22363613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:66043745..66087598hg38UCSC Ensembl
Outerchr9:42433726..42477588hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3843854
hg1943863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282797, nssv14282796, nssv14282795
SamplesHG00512, HG00731, HG00513
Known GenesFAM95B1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218189
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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