A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601048



Internal ID16388457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18099363..18117867hg38UCSC Ensembl
Innerchr6:18099594..18118098hg19UCSC Ensembl
Innerchr6:18207573..18226077hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3818505
hg1918505
hg1818505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1049697
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601048
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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