A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557532



Internal ID16344941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11341087..11413332hg38UCSC Ensembl
Innerchr12:11494021..11566266hg19UCSC Ensembl
Innerchr12:11385288..11457533hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3872246
hg1972246
hg1872246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2373n54
Supporting Variantsnssv790267, nssv790269, nssv790268
Samples
Known GenesPRB1, PRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557532
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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