A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557258



Internal ID15997981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6766210..6767277hg38UCSC Ensembl
Innerchr12:6875376..6876443hg19UCSC Ensembl
Innerchr12:6745637..6746704hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381068
hg191068
hg181068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787254
Samples
Known GenesPTMS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557258
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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