A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559045



Internal ID15999768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57718406..57771302hg38UCSC Ensembl
Innerchr12:58112189..58165085hg19UCSC Ensembl
Innerchr12:56398456..56451352hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3852897
hg1952897
hg1852897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796456, nssv796455
Samples
Known GenesAGAP2, AGAP2-AS1, CDK4, CYP27B1, MARCH9, METTL1, MIR6759, OS9, TSPAN31
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559045
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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