A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593316



Internal ID16034039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1526039..1768630hg38UCSC Ensembl
Innerchr4:1527766..1770357hg19UCSC Ensembl
Innerchr4:1498513..1740155hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38242592
hg19242592
hg18241643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987706
Samples
Known GenesFAM53A, SLBP, TACC3, TMEM129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593316
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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