A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9463n152



Internal ID22825166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4346658..4346972hg38UCSC Ensembl
chr9:4346658..4346972hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3176173, nsv3171718, nsv3185780
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
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)dgv9463n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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