A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875966



Internal ID6282977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232349636..232424046hg19UCSC Ensembl
Outerchr2:232343955..232432298hg19UCSC Ensembl
Innerchr2:232057880..232132290hg18UCSC Ensembl
Outerchr2:232052199..232140542hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1499521
SamplesSP50084
Known GenesLINC00471, NMUR1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875966
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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