A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410079



Internal ID22324122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18052953..18053111hg38UCSC Ensembl
chr22:18535719..18535877hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3297991
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14410079
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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