A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10246n152



Internal ID22825949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115474389..115474735hg38UCSC Ensembl
chr20:5943011..5943320hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38347
hg19310
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3271678, nsv3273837
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMCM8
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)dgv10246n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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