A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441



Internal ID5089825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111485273..111513415hg19UCSC Ensembl
Outerchr6:111591966..111620108hg18UCSC Ensembl
Outerchr6:111591966..111620108hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg198306
hg188306
hg178306
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv8284
SamplesNA12156
Known GenesSLC16A10
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)nsv5441
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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