A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547401



Internal ID15988124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108246902..108450466hg38UCSC Ensembl
Innerchr1:108789524..108993088hg19UCSC Ensembl
Innerchr1:108591047..108794611hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38203565
hg19203565
hg18203565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv481n54
Supporting Variantsnssv721100, nssv721099
Samples
Known GenesNBPF6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547401
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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