A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560508



Internal ID16001231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911435..123911970hg38UCSC Ensembl
Innerchr12:124395982..124396517hg19UCSC Ensembl
Innerchr12:122961935..122962470hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38536
hg19536
hg18536
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803727, nssv803728, nssv803729
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560508
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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