A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548410



Internal ID16335819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187340472..187405230hg38UCSC Ensembl
Innerchr1:187309604..187374362hg19UCSC Ensembl
Innerchr1:185576227..185640985hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3864759
hg1964759
hg1864759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv667n54
Supporting Variantsnssv729855
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548410
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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