A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557928



Internal ID15998651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691593..29693199hg38UCSC Ensembl
Innerchr12:29844526..29846132hg19UCSC Ensembl
Innerchr12:29735793..29737399hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381607
hg191607
hg181607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2446n54
Supporting Variantsnssv790574, nssv790569, nssv790557, nssv790573, nssv790562, nssv790565, nssv790572, nssv790560, nssv790566, nssv790570, nssv790556, nssv790559, nssv790576, nssv790567, nssv790554, nssv790571, nssv790578, nssv790582, nssv790561, nssv790581, nssv790584, nssv790577, nssv790558, nssv790579, nssv790568, nssv790583, nssv790580, nssv790564, nssv790575, nssv790555, nssv790563
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557928
Frequency
Sample Size17421
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer