A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552612



Internal ID22421506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42324112..42324112hg38UCSC Ensembl
chr22:42720118..42720118hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395794
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)nsv3552612
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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