A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7343n152



Internal ID22823046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55696686..55696737hg38UCSC Ensembl
chr5:54992514..54992565hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3170371, nsv3174748
SamplesHG00733, HG00514
Known GenesSLC38A9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7343n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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