A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557126



Internal ID16344535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4648643..4659453hg38UCSC Ensembl
Innerchr12:4757809..4768619hg19UCSC Ensembl
Innerchr12:4628070..4638880hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3810811
hg1910811
hg1810811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786745
Samples
Known GenesAKAP3, NDUFA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557126
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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