A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596646



Internal ID16384055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467509..474507hg38UCSC Ensembl
Innerchr5:467624..474622hg19UCSC Ensembl
Innerchr5:520624..527622hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg386999
hg196999
hg186999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9484n54
Supporting Variantsnssv1021186, nssv1021184, nssv1021185
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596646
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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