A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217333



Internal ID22363030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24851174..24851501hg38UCSC Ensembl
chr16:24862495..24862822hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3185n152
Supporting Variantsnssv14431519
SamplesHG00514
Known GenesSLC5A11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217333
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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