A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2621n152



Internal ID22818324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51134684..51134990hg38UCSC Ensembl
chr14:51601402..51601708hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3181022, nsv3521996
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
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)dgv2621n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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