A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv790271



Internal ID16084227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11341521..11422636hg38UCSC Ensembl
Innerchr12:11494455..11575570hg19UCSC Ensembl
Innerchr12:11385722..11466837hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3881116
hg1981116
hg1881116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557534
Supporting Variants
Samples
Known GenesPRB1, PRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv790271
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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