A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557531



Internal ID16344940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11341087..11404725hg38UCSC Ensembl
Innerchr12:11494021..11557659hg19UCSC Ensembl
Innerchr12:11385288..11448926hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3863639
hg1963639
hg1863639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2373n54
Supporting Variantsnssv790266
Samples
Known GenesPRB1, PRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557531
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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