A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225806



Internal ID22368823
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 StatusM
Merged Variantsdgv3155n152
Supporting Variantsnssv14379502, nssv14404834, nssv14377689, nssv14385088, nssv14375363, nssv14390594
SamplesHG00512, NA19239, HG00732, NA19240, HG00733
Known GenesSHISA9
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225806
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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