A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409784



Internal ID22317728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30288277..30288432hg38UCSC Ensembl
chr22:30684266..30684421hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204746
Supporting Variants
SamplesNA19240
Known GenesGATSL3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409784
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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