A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548552



Internal ID16335961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190464283..190576153hg38UCSC Ensembl
Innerchr1:190433413..190545283hg19UCSC Ensembl
Innerchr1:188700036..188811906hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38111871
hg19111871
hg18111871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732569
Samples
Known GenesBRINP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548552
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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