A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422791



Internal ID22161493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32931911..32931987hg38UCSC Ensembl
chr22:33327896..33327972hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198773
Supporting Variants
SamplesHG00514
Known GenesSYN3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14422791
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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