A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557931



Internal ID15998654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691695..29692442hg38UCSC Ensembl
Innerchr12:29844628..29845375hg19UCSC Ensembl
Innerchr12:29735895..29736642hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38748
hg19748
hg18748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2444n54
Supporting Variantsnssv790721, nssv790719, nssv790720
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557931
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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