A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557939



Internal ID15998662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691695..29698786hg38UCSC Ensembl
Innerchr12:29844628..29851719hg19UCSC Ensembl
Innerchr12:29735895..29742986hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387092
hg197092
hg187092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2447n54
Supporting Variantsnssv790792, nssv790793, nssv790795, nssv790794
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557939
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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