A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516234



Internal ID15443527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:55031708..55055047hg38UCSC Ensembl
Innerchr3:55065735..55089074hg19UCSC Ensembl
Innerchr3:55040775..55064114hg18UCSC Ensembl
Innerchr3:55040775..55064114hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3823340
hg1923340
hg1823340
hg1723340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv285n21
Supporting Variantsnssv681259, nssv666974
Samples
Known GenesCACNA2D3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516234
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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