A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10112n152



Internal ID22825815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47104790..47105316hg38UCSC Ensembl
chrX:46964189..46964715hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3202356, nsv3193479
SamplesHG00731, NA19240, 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)dgv10112n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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