A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559791



Internal ID16000514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94148083..94150048hg38UCSC Ensembl
Innerchr12:94541859..94543824hg19UCSC Ensembl
Innerchr12:93065990..93067955hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381966
hg191966
hg181966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2795n54
Supporting Variantsnssv800727, nssv800728
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559791
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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