A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996658



Internal ID16942924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8619374..8635674hg38UCSC Ensembl
Outerchr4:8621101..8637400hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3816301
hg1916300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949786
Supporting Variants
SamplesBILGI_BIOE
Known GenesCPZ
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996658
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