A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830581



Internal ID6156305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92317207..92511175hg19UCSC Ensembl
Outerchr1:92089795..92283763hg18UCSC Ensembl
Outerchr1:92029228..92223196hg17UCSC Ensembl
Cytoband1p22.1
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 Variantsnssv1447795
Samples
Known GenesBRDT, EPHX4, TGFBR3
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830581
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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