A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2790n152



Internal ID22818493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105461495..105480272hg38UCSC Ensembl
chr14:105927832..105946609hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3818778
hg1918778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3242543, nsv3245844
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesCRIP2, MTA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2790n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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