A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220653



Internal ID22365289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40372183..40477171hg38UCSC Ensembl
Outerchr9:42517201..42613955hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg38104989
hg1996755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281670, nssv14281671, nssv14281669
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220653
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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