A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789512



Internal ID15736782
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 StatusS
Merged Variantsnsv557702
Supporting Variants
Samples
Known GenesPDE3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789512
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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