A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv790717



Internal ID15737987
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 StatusS
Merged Variantsnsv557930
Supporting Variants
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv790717
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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