A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548546



Internal ID15989269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190067563..190101789hg38UCSC Ensembl
Innerchr1:190036693..190070919hg19UCSC Ensembl
Innerchr1:188303316..188337542hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3834227
hg1934227
hg1834227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv693n54
Supporting Variantsnssv732564
Samples
Known GenesBRINP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548546
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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