A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228736



Internal ID22370822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:42251558..42317969hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3866412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281918, nssv14281916, nssv14281917, nssv14281919
SamplesHG00512, NA19239, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228736
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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