A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv876049



Internal ID6283060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238143803..238239441hg19UCSC Ensembl
Outerchr2:238137652..238243267hg19UCSC Ensembl
Innerchr2:237808542..237904180hg18UCSC Ensembl
Outerchr2:237802391..237908006hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1500270
SamplesSP50084
Known GenesCOL6A3
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv876049
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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