A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548087



Internal ID16335496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:164023239..164237578hg38UCSC Ensembl
Innerchr1:163992476..164206815hg19UCSC Ensembl
Innerchr1:162259100..162473439hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38214340
hg19214340
hg18214340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv610n54
Supporting Variantsnssv727709
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548087
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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