A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596643



Internal ID16384052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467509..473557hg38UCSC Ensembl
Innerchr5:467624..473672hg19UCSC Ensembl
Innerchr5:520624..526672hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg386049
hg196049
hg186049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9484n54
Supporting Variantsnssv1021170, nssv1021172, nssv1021171
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596643
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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