A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548660



Internal ID15989383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192640138..192976218hg38UCSC Ensembl
Innerchr1:192609268..192945348hg19UCSC Ensembl
Innerchr1:190875891..191211971hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38336081
hg19336081
hg18336081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732828
Samples
Known GenesRGS13, RGS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548660
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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