A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519293



Internal ID15099900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57189889..57243810hg38UCSC Ensembl
Innerchr12:57583672..57637593hg19UCSC Ensembl
Innerchr12:55869939..55923860hg18UCSC Ensembl
Innerchr12:55869939..55923860hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3853922
hg1953922
hg1853922
hg1753922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695975, nssv661597, nssv683823, nssv655228
Samples
Known GenesLRP1, MIR1228, NDUFA4L2, NXPH4, SHMT2, STAC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519293
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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