A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548357



Internal ID15989080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:181088878..181091655hg38UCSC Ensembl
Innerchr1:181058014..181060791hg19UCSC Ensembl
Innerchr1:179324637..179327414hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382778
hg192778
hg182778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729736
Samples
Known GenesIER5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548357
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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