A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243317



Internal ID22375536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142236676..142275703hg38UCSC Ensembl
Outerchr8:143318037..143357064hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382248
hg192248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279875, nssv14279878, nssv14279877, nssv14279876
SamplesNA19238, NA19239, HG00732, NA19240
Known GenesTSNARE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243317
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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