A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv872524



Internal ID6279535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167367766..167415791hg19UCSC Ensembl
Outerchr1:167357561..167420425hg19UCSC Ensembl
Innerchr1:165634390..165682415hg18UCSC Ensembl
Outerchr1:165624185..165687049hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1598636
SamplesIS41105
Known GenesCD247, POU2F1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv872524
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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