A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548448



Internal ID16335857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187762486..187842893hg38UCSC Ensembl
Innerchr1:187731617..187812024hg19UCSC Ensembl
Innerchr1:185998240..186078647hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3880408
hg1980408
hg1880408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv674n54
Supporting Variantsnssv1173935
SamplesHGDP00664
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548448
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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