A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559206



Internal ID16346615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66460574..66556509hg38UCSC Ensembl
Innerchr12:66854354..66950289hg19UCSC Ensembl
Innerchr12:65140621..65236556hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3895936
hg1995936
hg1895936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176416
Samples1782681262_A
Known GenesGRIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559206
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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