A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263127



Internal ID22268803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15703465..15794126hg38UCSC Ensembl
Outerchr19:15814275..15904936hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382386
hg192386
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248463
Supporting Variants
SamplesNA19238
Known GenesCYP4F24P, OR10H2, OR10H3, OR10H5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263127
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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