A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952463



Internal ID17301337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:92128725..92144324hg38UCSC Ensembl
Outerchr12:92522501..92538100hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3815600
hg1915600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997332
SamplesBILGI_BIOE
Known GenesBTG1, C12orf79
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952463
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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