A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600995



Internal ID16041718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:13944836..14009000hg38UCSC Ensembl
Innerchr6:13945067..14009231hg19UCSC Ensembl
Innerchr6:14053046..14117210hg18UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3864165
hg1964165
hg1864165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10302n54
Supporting Variantsnssv1049418
Samples
Known GenesRNF182
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600995
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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