A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218058



Internal ID22363530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137813742..137822537hg38UCSC Ensembl
Outerchr9:140708194..140716989hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388796
hg198796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281861
SamplesNA19238
Known GenesEHMT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218058
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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