A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516798



Internal ID15097405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1843824..1864218hg38UCSC Ensembl
Innerchr12:1952990..1973384hg19UCSC Ensembl
Innerchr12:1823251..1843645hg18UCSC Ensembl
Innerchr12:1823251..1843645hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3820395
hg1920395
hg1820395
hg1720395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657858, nssv670983, nssv676374, nssv671606
Samples
Known GenesCACNA2D4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516798
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