A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558102



Internal ID16345511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31736890..31754475hg38UCSC Ensembl
Innerchr12:31889824..31907409hg19UCSC Ensembl
Innerchr12:31781091..31798676hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3817586
hg1917586
hg1817586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv791698
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558102
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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