A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224001



Internal ID22367581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47260818..47260890hg38UCSC Ensembl
chr22:47656568..47656640hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5771n152
Supporting Variantsnssv14460018, nssv14408116
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224001
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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