A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546831



Internal ID15987554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93822968..93828634hg38UCSC Ensembl
Innerchr1:94288524..94294190hg19UCSC Ensembl
Innerchr1:94061112..94066778hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg385667
hg195667
hg185667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv370n54
Supporting Variantsnssv719584
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546831
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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