A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548084



Internal ID16335493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:163837803..163896786hg38UCSC Ensembl
Innerchr1:163807040..163866023hg19UCSC Ensembl
Innerchr1:162073664..162132647hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3858984
hg1958984
hg1858984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv727706
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548084
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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