A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4322n152



Internal ID22820025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51273137..51273457hg38UCSC Ensembl
chr19:51776391..51776711hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3171962, nsv3180512
SamplesNA19239, HG00731, NA19240
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)dgv4322n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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