A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559292



Internal ID16346701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70482979..70508832hg38UCSC Ensembl
Innerchr12:70876759..70902612hg19UCSC Ensembl
Innerchr12:69163026..69188879hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3825854
hg1925854
hg1825854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798078
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559292
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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