A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219940



Internal ID22364798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68196178..68196632hg38UCSC Ensembl
chr16:68230081..68230535hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3266n152
Supporting Variantsnssv14404733
SamplesNA19240
Known GenesNFATC3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219940
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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