A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559049



Internal ID16346458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58966156..59042398hg38UCSC Ensembl
Innerchr12:59359937..59436179hg19UCSC Ensembl
Innerchr12:57646204..57722446hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3876243
hg1976243
hg1876243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796460, nssv796461
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559049
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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