A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597927



Internal ID16385336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:43556461..43557303hg38UCSC Ensembl
Innerchr5:43556563..43557405hg19UCSC Ensembl
Innerchr5:43592320..43593162hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38843
hg19843
hg18843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9737n54
Supporting Variantsnssv1029366, nssv1029367
Samples
Known GenesPAIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597927
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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