A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519694



Internal ID6013610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:51064416..51087348hg19UCSC Ensembl
Innerchr22:49411282..49434214hg18UCSC Ensembl
Innerchr22:49354560..49377492hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv701036, nssv675115, nssv657594
Samples
Known GenesARSA
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv519694
Frequency
Sample Size2026
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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