A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282877



Internal ID22156148
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221287
Supporting Variants
SamplesHG00514
Known GenesNELFB, TOR4A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282877
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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