A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557533



Internal ID16344942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11341087..11422636hg38UCSC Ensembl
Innerchr12:11494021..11575570hg19UCSC Ensembl
Innerchr12:11385288..11466837hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3881550
hg1981550
hg1881550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2373n54
Supporting Variantsnssv790270, nssv1175423
SamplesNINDS_69
Known GenesPRB1, PRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557533
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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