A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600996



Internal ID16041719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:13954401..14014562hg38UCSC Ensembl
Innerchr6:13954632..14014793hg19UCSC Ensembl
Innerchr6:14062611..14122772hg18UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3860162
hg1960162
hg1860162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10302n54
Supporting Variantsnssv1049419
Samples
Known GenesRNF182
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600996
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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