A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952674



Internal ID16954861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:50743190..50793689hg38UCSC Ensembl
Outerchr16:50777101..50827600hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3850500
hg1950500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000142
SamplesBILGI_BIOE
Known GenesCYLD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952674
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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