A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8054



Internal ID15845966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:14254904..14259922hg38UCSC Ensembl
Outerchr7:14294529..14299547hg19UCSC Ensembl
Outerchr7:14261054..14266072hg18UCSC Ensembl
Outerchr7:14067769..14072787hg17UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg385019
hg195019
hg185019
hg175019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17924, nssv17663
SamplesNA18517, NA18972
Known GenesDGKB
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv8054
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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