A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546815



Internal ID15987538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91766554..91767670hg38UCSC Ensembl
Innerchr1:92232111..92233227hg19UCSC Ensembl
Innerchr1:92004699..92005815hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381117
hg191117
hg181117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv367n54
Supporting Variantsnssv719121, nssv719101, nssv719120, nssv719097, nssv719119, nssv719103, nssv719118, nssv719108, nssv719107, nssv719100, nssv719124, nssv719110, nssv719123, nssv719112, nssv719109, nssv719125, nssv719122, nssv719098, nssv719114, nssv719102, nssv719111, nssv719115, nssv719099, nssv719117, nssv719116, nssv719104, nssv719106, nssv719113, nssv719105
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546815
Frequency
Sample Size17421
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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