A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263103



Internal ID22269542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39842899..39866686hg38UCSC Ensembl
Outerchr19:40333539..40357326hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245421
Supporting Variants
SamplesNA19239
Known GenesFBL, FCGBP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263103
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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