A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557702



Internal ID15998425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20602692..20626144hg38UCSC Ensembl
Innerchr12:20755626..20779078hg19UCSC Ensembl
Innerchr12:20646893..20670345hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3823453
hg1923453
hg1823453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789512
Samples
Known GenesPDE3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557702
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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