A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875751



Internal ID6282762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:209045991..209101311hg19UCSC Ensembl
Outerchr2:209042963..209110784hg19UCSC Ensembl
Innerchr2:208754236..208809556hg18UCSC Ensembl
Outerchr2:208751208..208819029hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1499523
SamplesSP50521
Known GenesC2orf80, IDH1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875751
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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