A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548548



Internal ID15989271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190094081..190139751hg38UCSC Ensembl
Innerchr1:190063211..190108881hg19UCSC Ensembl
Innerchr1:188329834..188375504hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3845671
hg1945671
hg1845671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv694n54
Supporting Variantsnssv732566
Samples
Known GenesBRINP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548548
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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