A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546814



Internal ID15987537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91766554..91767619hg38UCSC Ensembl
Innerchr1:92232111..92233176hg19UCSC Ensembl
Innerchr1:92004699..92005764hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381066
hg191066
hg181066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv367n54
Supporting Variantsnssv719096
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546814
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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