A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545749



Internal ID15986472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22551320..22625893hg38UCSC Ensembl
Innerchr1:22877813..22952386hg19UCSC Ensembl
Innerchr1:22750400..22824973hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3874574
hg1974574
hg1874574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv711297, nssv711296
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545749
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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