A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519240



Internal ID6023316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33950703..34749416hg19UCSC Ensembl
Innerchr5:33986460..34785173hg18UCSC Ensembl
Innerchr5:33986460..34785173hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv696733
Samples
Known GenesAMACR, C1QTNF3, C1QTNF3-AMACR, RAI14, SLC45A2
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv519240
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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