A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545758



Internal ID16333167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22563356..22564576hg38UCSC Ensembl
Innerchr1:22889849..22891069hg19UCSC Ensembl
Innerchr1:22762436..22763656hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381221
hg191221
hg181221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv183n54
Supporting Variantsnssv711308
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545758
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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