A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5824n152



Internal ID22821527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50678804..50686878hg38UCSC Ensembl
chr22:51117232..51125306hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg388075
hg198075
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3205901, nsv3210291
SamplesNA19240, HG00514
Known GenesSHANK3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5824n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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