A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011292



Internal ID18753826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1680529..1710725hg38UCSC Ensembl
Innerchr4:1682256..1712452hg19UCSC Ensembl
Innerchr4:1652054..1682250hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3830197
hg1930197
hg1830197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5081n100
Supporting Variantsnssv3616107
Samples
Known GenesFAM53A, SLBP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011292
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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