A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519583



Internal ID6023997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:27243962..27298264hg19UCSC Ensembl
Innerchr7:27210487..27264789hg18UCSC Ensembl
Innerchr7:27017202..27071504hg17UCSC Ensembl
Cytoband7p15.2
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 Variantsnssv696934
Samples
Known GenesEVX1, HOTTIP
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)nsv519583
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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