A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422814



Internal ID22161524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35735298..35741526hg38UCSC Ensembl
chr22:36131345..36137573hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386229
hg196229
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200950
Supporting Variants
SamplesHG00514
Known GenesRBFOX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14422814
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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