A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3478n152



Internal ID22819181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14277256..14295827hg38UCSC Ensembl
chr17:14180573..14199144hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3818572
hg1918572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3222950, nsv3225385
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3478n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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