A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559362



Internal ID16000085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72248004..72300911hg38UCSC Ensembl
Innerchr12:72641784..72694691hg19UCSC Ensembl
Innerchr12:70928051..70980958hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3852908
hg1952908
hg1852908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798606
Samples
Known GenesTRHDE, TRHDE-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559362
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