A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557921



Internal ID15998644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29690162..29706419hg38UCSC Ensembl
Innerchr12:29843095..29859352hg19UCSC Ensembl
Innerchr12:29734362..29750619hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3816258
hg1916258
hg1816258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv790487
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557921
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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