A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228355



Internal ID22370568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:29035534..29107883hg38UCSC Ensembl
Outerchr9:29035532..29107881hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3872350
hg1972350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281643, nssv14281645, nssv14281644, nssv14281648, nssv14281646, nssv14281647
SamplesNA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesLINGO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228355
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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