A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263252



Internal ID22185436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15931147..15943538hg38UCSC Ensembl
Outerchr19:16041957..16054348hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381508
hg191508
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242063
Supporting Variants
SamplesHG00731
Known GenesCYP4F11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263252
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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