A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3524n152



Internal ID22819227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29285082..29297253hg38UCSC Ensembl
chr17:27612100..27624271hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3812172
hg1912172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229167, nsv3213684
SamplesHG00731, HG00513
Known GenesNUFIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3524n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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