A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2597n152



Internal ID22818300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41126665..41207973hg38UCSC Ensembl
chr14:41595870..41677176hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3881309
hg1981307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3213989, nsv3213542
SamplesNA19238, HG00513, HG00514
Known GenesLOC644919
MethodOptical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PlatformBioNano Genomics
Illumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2597n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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