A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220487



Internal ID22365165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31483688..31484007hg38UCSC Ensembl
chr16:31495009..31495328hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390357
SamplesNA19238
Known GenesSLC5A2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220487
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer