A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443426



Internal ID22227950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118391593..118391968hg38UCSC Ensembl
chr11:118262308..118262683hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200079
Supporting Variants
SamplesHG00733
Known GenesLOC100131626, UBE4A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14443426
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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