A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404834



Internal ID22318784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13198202..13198280hg38UCSC Ensembl
chr16:13292059..13292137hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225806
Supporting Variants
SamplesNA19240
Known GenesSHISA9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404834
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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