A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405795



Internal ID22299218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22843730..22848169hg38UCSC Ensembl
chr16:22855051..22859490hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384440
hg194440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214535
Supporting Variants
SamplesNA19240
Known GenesHS3ST2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14405795
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