A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219078



Internal ID22364212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:42422418..42467243hg38UCSC Ensembl
Outerchr9:44503876..44548701hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3844826
hg1944826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280319, nssv14280321, nssv14280318, nssv14280320
SamplesNA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219078
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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