A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5727n152



Internal ID22821430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37097758..37097823hg38UCSC Ensembl
chr22:37493798..37493863hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3192961, nsv3199604
SamplesHG00733, HG00514
Known GenesTMPRSS6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5727n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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