A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609454



Internal ID16396863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:380328..482146hg38UCSC Ensembl
Innerchr8:330328..432146hg19UCSC Ensembl
Innerchr8:320328..422146hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38101819
hg19101819
hg18101819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1102104
Samples
Known GenesFAM87A, FBXO25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609454
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