A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520785



Internal ID6013802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49554132..49573438hg19UCSC Ensembl
Innerchr19:54245944..54265250hg18UCSC Ensembl
Innerchr19:54245944..54265250hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv691940, nssv675408
Samples
Known GenesCGB7, KCNA7, NTF4
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv520785
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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