A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831093



Internal ID6156817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:114254167..114378235hg19UCSC Ensembl
Outerchr1:114055690..114179758hg18UCSC Ensembl
Outerchr1:113966209..114090277hg17UCSC Ensembl
Cytoband1p13.2
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 Variantsnssv1448784
Samples
Known GenesPHTF1, PTPN22, RSBN1
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv831093
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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