A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214207



Internal ID22360927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48542391..48542638hg38UCSC Ensembl
chr22:48938203..48938450hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5783n152
Supporting Variantsnssv14410126
SamplesNA19240
Known GenesFAM19A5, LOC284933
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214207
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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