A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545761



Internal ID16333170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22563949..22564576hg38UCSC Ensembl
Innerchr1:22890442..22891069hg19UCSC Ensembl
Innerchr1:22763029..22763656hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38628
hg19628
hg18628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv185n54
Supporting Variantsnssv711311
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545761
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