A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4309n152



Internal ID22820012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50045626..50152843hg38UCSC Ensembl
chr19:50548883..50656100hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38107218
hg19107218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3233802, nsv3239501
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFLJ26850, IZUMO2, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, ZNF473
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4309n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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