A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546811



Internal ID15987534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91766554..91767353hg38UCSC Ensembl
Innerchr1:92232111..92232910hg19UCSC Ensembl
Innerchr1:92004699..92005498hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38800
hg19800
hg18800
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv366n54
Supporting Variantsnssv719093
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546811
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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