A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548549



Internal ID15989272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190094081..190147232hg38UCSC Ensembl
Innerchr1:190063211..190116362hg19UCSC Ensembl
Innerchr1:188329834..188382985hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3853152
hg1953152
hg1853152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv694n54
Supporting Variantsnssv732567
Samples
Known GenesBRINP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548549
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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