A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546812



Internal ID15987535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91766554..91767410hg38UCSC Ensembl
Innerchr1:92232111..92232967hg19UCSC Ensembl
Innerchr1:92004699..92005555hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38857
hg19857
hg18857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv366n54
Supporting Variantsnssv719094
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546812
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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