A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875384



Internal ID6282395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169879887..169893949hg19UCSC Ensembl
Outerchr2:169877085..169908684hg19UCSC Ensembl
Innerchr2:169588133..169602195hg18UCSC Ensembl
Outerchr2:169585331..169616930hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1545387
SamplesMS16772
Known GenesABCB11
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875384
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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