A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601050



Internal ID16041773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18134947..18221240hg38UCSC Ensembl
Innerchr6:18135178..18221471hg19UCSC Ensembl
Innerchr6:18243157..18329450hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3886294
hg1986294
hg1886294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1049699
Samples
Known GenesKDM1B, TPMT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601050
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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