A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612939



Internal ID16053662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144435160..144452441hg38UCSC Ensembl
Innerchr8:145660543..145677824hg19UCSC Ensembl
Innerchr8:145631351..145648632hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3817282
hg1917282
hg1817282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12438n54
Supporting Variantsnssv1125799
Samples
Known GenesCYHR1, LOC100287098, MIR6893, TONSL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612939
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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