A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521971



Internal ID6025850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:72666424..72678738hg19UCSC Ensembl
Innerchr15:70453478..70465792hg18UCSC Ensembl
Innerchr15:70453478..70465792hg17UCSC Ensembl
Cytoband15q23
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 Variantsnssv694740
Samples
Known GenesC15orf34, HEXA
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)nsv521971
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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