A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557918



Internal ID15998641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29690162..29692391hg38UCSC Ensembl
Innerchr12:29843095..29845324hg19UCSC Ensembl
Innerchr12:29734362..29736591hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382230
hg192230
hg182230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2443n54
Supporting Variantsnssv790481
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557918
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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