A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7728



Internal ID5085500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:31824904..31869939hg19UCSC Ensembl
Outerchr11:31781480..31826515hg18UCSC Ensembl
Outerchr11:31781480..31826515hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg195600
hg185600
hg175600
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv8896
SamplesNA12156
Known GenesDKFZp686K1684, PAX6
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv7728
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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