A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2446n54



Internal ID20135870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691593..29693318hg38UCSC Ensembl
chr12:29844526..29846251hg19UCSC Ensembl
chr12:29735793..29737518hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381726
hg191726
hg181726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557941, nsv557948, nsv557954, nsv557942, nsv557946, nsv557943, nsv557935, nsv557952, nsv557938, nsv557944, nsv557937, nsv557936, nsv557927, nsv557929, nsv557947, nsv557926, nsv557928, nsv557951
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2446n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss270
Observed Complex0
Frequencyn/a


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