A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221287



Internal ID22365722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137268199..137293134hg38UCSC Ensembl
Outerchr9:140162651..140187586hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3824936
hg1924936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282877
SamplesHG00514
Known GenesNELFB, TOR4A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221287
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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