A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558697



Internal ID16346106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40761198..40812718hg38UCSC Ensembl
Innerchr12:41155000..41206520hg19UCSC Ensembl
Innerchr12:39441267..39492787hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3851521
hg1951521
hg1851521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2595n54
Supporting Variantsnssv794056
Samples
Known GenesCNTN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558697
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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