A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557930



Internal ID15998653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691593..29698786hg38UCSC Ensembl
Innerchr12:29844526..29851719hg19UCSC Ensembl
Innerchr12:29735793..29742986hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387194
hg197194
hg187194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2447n54
Supporting Variantsnssv790713, nssv790718, nssv790716, nssv790717, nssv790714, nssv790715
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557930
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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