A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545754



Internal ID16333163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22563356..22564322hg38UCSC Ensembl
Innerchr1:22889849..22890815hg19UCSC Ensembl
Innerchr1:22762436..22763402hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38967
hg19967
hg18967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv183n54
Supporting Variantsnssv711302, nssv711303
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545754
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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