A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247477



Internal ID22376729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:41750038..42219216hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3843456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282996, nssv14282997
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247477
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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