A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560312



Internal ID16001035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116179980..116199110hg38UCSC Ensembl
Innerchr12:116617785..116636915hg19UCSC Ensembl
Innerchr12:115102168..115121298hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3819131
hg1919131
hg1819131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802809
Samples
Known GenesMED13L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560312
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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