A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7211n152



Internal ID22822914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14308656..14308740hg38UCSC Ensembl
chr5:14308765..14308849hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3281477, nsv3525332
SamplesNA19239, NA19240
Known GenesTRIO
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7211n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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