A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557953



Internal ID15998676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691924..29698786hg38UCSC Ensembl
Innerchr12:29844857..29851719hg19UCSC Ensembl
Innerchr12:29736124..29742986hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386863
hg196863
hg186863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2447n54
Supporting Variantsnssv790837
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557953
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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