A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549458



Internal ID16336867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240863758..241006850hg38UCSC Ensembl
Innerchr1:241027058..241170150hg19UCSC Ensembl
Innerchr1:239093681..239236773hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38143093
hg19143093
hg18143093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174076
SamplesHGDP00950
Known GenesRGS7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549458
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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