A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv691n152



Internal ID22816394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248549476..248649010hg38UCSC Ensembl
chr1:248712777..248812311hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3899535
hg1999535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3195591, nsv3209428
SamplesNA19239, NA19240
Known GenesOR2T10, OR2T11, OR2T29, OR2T34, OR2T35
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv691n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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