A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596644



Internal ID16384053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467509..473651hg38UCSC Ensembl
Innerchr5:467624..473766hg19UCSC Ensembl
Innerchr5:520624..526766hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg386143
hg196143
hg186143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9484n54
Supporting Variantsnssv1021173, nssv1021174
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596644
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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