A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203372



Internal ID22352396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49345100..49345241hg38UCSC Ensembl
chr16:49379011..49379152hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14418914
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203372
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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