A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559893



Internal ID16347302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98384658..98401147hg38UCSC Ensembl
Innerchr12:98778436..98794925hg19UCSC Ensembl
Innerchr12:97302567..97319056hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3816490
hg1916490
hg1816490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801139
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559893
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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