A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226



Internal ID5090452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238244031..238275667hg19UCSC Ensembl
Outerchr2:237908770..237940406hg18UCSC Ensembl
Outerchr2:238026031..238057667hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg197871
hg187871
hg177871
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv10275
SamplesNA18956
Known GenesCOL6A3
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)nsv3226
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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