A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559129



Internal ID16346538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:60129048..60146327hg38UCSC Ensembl
Innerchr12:60522829..60540108hg19UCSC Ensembl
Innerchr12:58809096..58826375hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3817280
hg1917280
hg1817280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2665n54
Supporting Variantsnssv797409
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559129
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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