A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279877



Internal ID22273664
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243317
Supporting Variants
SamplesNA19239
Known GenesTSNARE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279877
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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