A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219127



Internal ID22364247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:41969857..42219216hg38UCSC Ensembl
Outerchr9:40475835..40735870hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38249360
hg19260036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9561n152
Supporting Variantsnssv14282870, nssv14282869
SamplesHG00733, HG00514
Known GenesFAM74A3, SPATA31A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219127
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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