A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7508n152



Internal ID22823211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122938646..122938975hg38UCSC Ensembl
chr5:122274341..122274670hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3180277, nsv3189384
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSNX24
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)dgv7508n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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