A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247887



Internal ID22376819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:34670781..34718902hg38UCSC Ensembl
Outerchr9:34670778..34718899hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg382370
hg192370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253196, nssv14253195
SamplesHG00732, HG00733
Known GenesCCL19, CCL21
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247887
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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