A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409818



Internal ID22323094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39468640..39469193hg38UCSC Ensembl
chr22:39864645..39865198hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204061
Supporting Variants
SamplesNA19240
Known GenesMGAT3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409818
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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