A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559422



Internal ID16346831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:75735576..75774286hg38UCSC Ensembl
Innerchr12:76129356..76168066hg19UCSC Ensembl
Innerchr12:74415623..74454333hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3838711
hg1938711
hg1838711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798865
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559422
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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