A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227124



Internal ID22369717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:17903677..17930194hg38UCSC Ensembl
Outerchr9:17903675..17930192hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3826518
hg1926518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281891, nssv14281889, nssv14281888, nssv14281890, nssv14281892
SamplesHG00512, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227124
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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