A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598946



Internal ID16386355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:93584115..93585076hg38UCSC Ensembl
Innerchr5:92919821..92920782hg19UCSC Ensembl
Innerchr5:92945577..92946538hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38962
hg19962
hg18962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9936n54
Supporting Variantsnssv1038091
Samples
Known GenesNR2F1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598946
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