A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519291



Internal ID6014414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92240685..92248695hg19UCSC Ensembl
Innerchr1:92013273..92021283hg18UCSC Ensembl
Innerchr1:91952706..91960716hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv689194, nssv655226
Samples
Known GenesTGFBR3
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv519291
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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