A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830495



Internal ID6156219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134360285..134539897hg19UCSC Ensembl
Outerchr5:134388184..134567796hg18UCSC Ensembl
Outerchr5:134388184..134567796hg17UCSC Ensembl
Cytoband5q31.1
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 Variantsnssv1445082
Samples
Known GenesPITX1
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830495
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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