A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000054



Internal ID17293006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:22299380..22329279hg38UCSC Ensembl
Outerchr16:22310701..22340600hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3829900
hg1929900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952951
Supporting Variants
SamplesBILGI_BIOE
Known GenesPOLR3E
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000054
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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