A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545755



Internal ID16333164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22563356..22564368hg38UCSC Ensembl
Innerchr1:22889849..22890861hg19UCSC Ensembl
Innerchr1:22762436..22763448hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381013
hg191013
hg181013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv182n54
Supporting Variantsnssv711304
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545755
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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