A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548710



Internal ID16336119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195257121..195417767hg38UCSC Ensembl
Innerchr1:195226251..195386897hg19UCSC Ensembl
Innerchr1:193492874..193653520hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38160647
hg19160647
hg18160647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv728n54
Supporting Variantsnssv1173991
SamplesHGDP00700
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548710
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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