A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv224n152



Internal ID22815927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55240233..55241861hg38UCSC Ensembl
chr1:55705906..55707534hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381629
hg191629
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3183175, nsv3173217, nsv3186865
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv224n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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