A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601054



Internal ID16388463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18401992..18402490hg38UCSC Ensembl
Innerchr6:18402223..18402721hg19UCSC Ensembl
Innerchr6:18510202..18510700hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10310n54
Supporting Variantsnssv1050622
Samples
Known GenesRNF144B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601054
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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