A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229144



Internal ID22371082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40514133..40614069hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3899937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9552n152
Supporting Variantsnssv14281677, nssv14281676, nssv14280286
SamplesNA19238, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229144
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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