A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560460



Internal ID16001183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121739416..121747874hg38UCSC Ensembl
Innerchr12:122177322..122185780hg19UCSC Ensembl
Innerchr12:120661705..120670163hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg388459
hg198459
hg188459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2919n54
Supporting Variantsnssv803432
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560460
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