A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518498



Internal ID15099105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71913836..72114999hg38UCSC Ensembl
Innerchr12:72307616..72508779hg19UCSC Ensembl
Innerchr12:70593883..70795046hg18UCSC Ensembl
Innerchr12:70593883..70795046hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38201164
hg19201164
hg18201164
hg17201164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695939
Samples
Known GenesTBC1D15, TPH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518498
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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