A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830518



Internal ID6156242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149320374..149496703hg19UCSC Ensembl
Outerchr5:149300567..149476896hg18UCSC Ensembl
Outerchr5:149300567..149476896hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1445111
Samples
Known GenesCSF1R, HMGXB3, PDE6A, PDGFRB, SLC26A2, TIGD6
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830518
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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