A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404733



Internal ID22312418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68196178..68196632hg38UCSC Ensembl
chr16:68230081..68230535hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219940
Supporting Variants
SamplesNA19240
Known GenesNFATC3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404733
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